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Disease on EC 1.3.99.3 - acyl-CoA dehydrogenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
An unusual case of severe high anion gap metabolic acidosis.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.
Acidosis, Lactic
Neurological disorders that may deteriorate with intensive physical rehabilitation.
Acute Kidney Injury
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
acyl-coa dehydrogenase deficiency
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
A primigravida with very-long chain acyl-CoA dehydrogenase deficiency.
A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency.
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy.
An unusual case of severe high anion gap metabolic acidosis.
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
Apoptosis in metabolic myopathies.
Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient.
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.
Deuterated Palmitate-driven Acylcarnitine formation by whole blood samples for a rapid diagnostic exploration of Mitochondrial fatty acid oxidation disorders.
Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency.
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Effect of a Sodium and Calcium DL-?-Hydroxybutyrate Salt in Healthy Adults.
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Efficiency of metabolic screening in childhood cardiomyopathies.
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum).
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Ethylene Glycol Monomethyl Ether-Induced Toxicity is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family.
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
Fatty acid oxidation defects in muscle.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.
Glutaric Aciduria Type II With Ketosis in a Male Infant.
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism.
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
Ketone body therapy with D/L-?-hydroxybutyric acid solution in severe MADD.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM.
Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Lipid storage myopathies: Current treatments and future directions.
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Lipolysis and lipophagy in lipid storage myopathies.
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Magnetic resonance spectroscopic characteristics of glutaric aciduria type II.
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl CoA in patient and control cell lines.
Metabolic lipid muscle disorders: biomarkers and treatment.
Metabolism of deuterium-labeled nonanoic acids in the riboflavin-deficient rat model of multiple acyl-CoA dehydrogenase deficiency.
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment.
Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.
Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report.
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.
Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Neurological disorders that may deteriorate with intensive physical rehabilitation.
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children.
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.
Protein misfolding and degradation in genetic diseases.
Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency--capacity of the choline oxidation pathway for methylation in vivo.
Quantification of hypoglycin A as butyl ester.
Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.
Renal handling of carnitine in secondary carnitine deficiency disorders.
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations.
Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation.
Riboflavin transport and metabolism in humans.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.
Role of RNA in Molecular Diagnosis of MADD Patients.
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree.
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Some notes on fatal acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in a two-year-old warmblood stallion and European tar spot (Rhytisma acerinum).
Spectrum of metabolic myopathies.
State of the art in muscle lipid diseases.
Strategies to Increase the Production of Biosynthetic Riboflavin.
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
The Brugada ECG pattern in a neonate.
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
The story of equine atypical myopathy: a review from the beginning to a possible end.
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Treatment Opportunities in Patients With Metabolic Myopathies.
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ(10)).
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Vitamins and inherited human errors of metabolism.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
[Acyl-CoA dehydrogenase deficiency (very-long-chain, long-chain, medium-chain, short-chain), mitochondrial]
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Clinical investigation in one patient with multiple acyl-CoA dehydrogenase deficiency and hearing loss].
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency]
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[Lipid storage myopathies : A clinical and pathobiochemical challenge.]
[Medium-chain acyl-CoA dehydrogenase deficiency: contribution of molecular biology]
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
[Metabolic defects with hypoketotic hypoglycemia]
[Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in the horse].
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
[Multiple acyl-CoA dehydrogenase deficiency in a neonate].
[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings]
[Muscle weakness and early stages of liver failure in a 22-year-old man].
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
[Very long-chain (and long-chain) acyl-CoA dehydrogenase deficiency]
Ataxia
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Avitaminosis
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Vitamins and inherited human errors of metabolism.
Brain Diseases
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Neurological disorders that may deteriorate with intensive physical rehabilitation.
Breast Neoplasms
Expression and affinity purification of recombinant mammalian mitochondrial ribosomal small subunit (MRPS) proteins and protein-protein interaction analysis indicate putative role in tumourigenic cellular processes.
Screening of core genes and pathways in breast cancer development via comprehensive analysis of multi gene expression datasets.
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Carcinoma
Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.
[Quantitative and comparative proteomics analysis in clear cell renal cell carcinoma and adjacent noncancerous tissues by 2-D DIGE].
Carcinoma, Hepatocellular
Hormonal and substrate regulation of 3-thia fatty acid metabolism in Morris 7800 C1 hepatoma cells.
Carcinoma, Renal Cell
[Quantitative and comparative proteomics analysis in clear cell renal cell carcinoma and adjacent noncancerous tissues by 2-D DIGE].
Cardiomegaly
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Reactivation of peroxisome proliferator-activated receptor alpha is associated with contractile dysfunction in hypertrophied rat heart.
Cardiomyopathies
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Cardiovascular Diseases
Strategies to Increase the Production of Biosynthetic Riboflavin.
carnitine o-palmitoyltransferase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Citrullinemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Colitis, Ulcerative
Sulfides impair short chain fatty acid beta-oxidation at acyl-CoA dehydrogenase level in colonocytes: implications for ulcerative colitis.
Colonic Neoplasms
Dysregulated Free Fatty Acid Receptor 2 Exacerbates Colonic Adenoma Formation in Apc Min/+ Mice: Relation to Metabolism and Gut Microbiota Composition.
Coma
Defects of fatty-acid oxidation in muscle.
Confusion
The effect of respiratory chain impairment of beta-oxidation in rat heart mitochondria.
Congenital Abnormalities
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Cystic Fibrosis
Protein misfolding and degradation in genetic diseases.
Cytochrome-c Oxidase Deficiency
Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
Deficiency Diseases
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Protein Misfolding Diseases and Therapeutic Approaches.
electron-transferring-flavoprotein dehydrogenase deficiency
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.
Epilepsy
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Esophageal Squamous Cell Carcinoma
Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.
Fatty Liver
Inhibition of mitochondrial fatty acid oxidation in pentenoic acid-induced fatty liver. A possible model for Reye's syndrome.
Proteomics and gene expression analyses of mitochondria from squalene-treated apoE-deficient mice identify short-chain specific acyl-CoA dehydrogenase changes associated with fatty liver amelioration.
Reduction of beta-oxidation capacity of rat liver mitochondria by feeding orotic acid.
Friedreich Ataxia
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Genetic Diseases, Inborn
Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Ethylene Glycol Monomethyl Ether-Induced Toxicity is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family.
Protein misfolding and degradation in genetic diseases.
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Glossitis
Strategies to Increase the Production of Biosynthetic Riboflavin.
Glucose Intolerance
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.
glutaryl-coa dehydrogenase (etf) deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Glycogen Storage Disease
Spectrum of metabolic myopathies.
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Glycogen Storage Disease Type II
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Glycogen Storage Disease Type V
Treatment Opportunities in Patients With Metabolic Myopathies.
Hearing Loss
Genotype-based databases for variants causing rare diseases.
Heart Failure
Enhanced acyl-CoA dehydrogenase activity is associated with improved mitochondrial and contractile function in heart failure.
Holocarboxylase Synthetase Deficiency
Vitamins and inherited human errors of metabolism.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Vitamins and inherited human errors of metabolism.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Metabolic defects with hypoketotic hypoglycemia]
Hypersensitivity, Delayed
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
Hypoglycemia
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse.
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Ichthyosis
State of the art in muscle lipid diseases.
Infections
Proteomic comparison of Mycobacterium avium subspecies paratuberculosis grown in vitro and isolated from clinical cases of ovine paratuberculosis.
Insulin Resistance
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.
Effect of gamma-carboxylase inhibition on serum osteocalcin may be partially protective against developing diabetic cardiomyopathy in type 2 diabetic rats.
isovaleryl-coa dehydrogenase deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Keratitis
Strategies to Increase the Production of Biosynthetic Riboflavin.
Ketosis
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Leigh Disease
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Lipid Metabolism Disorders
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Lipidoses
Metabolism of very long-chain monounsaturated fatty acids (22:1) and the adaptation to their presence in the diet.
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
Liver Failure, Acute
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
long-chain acyl-coa dehydrogenase deficiency
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Maple Syrup Urine Disease
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
Vitamins and inherited human errors of metabolism.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: application to medium-chain acyl-CoA dehydrogenase deficiency.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl CoA in patient and control cell lines.
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Metabolic Diseases
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Effect of a Sodium and Calcium DL-?-Hydroxybutyrate Salt in Healthy Adults.
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children.
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
Metabolic Syndrome
Metabolic effects of RUBCN/Rubicon deficiency in kidney proximal tubular epithelial cells.
Metabolism, Inborn Errors
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
Vitamins and inherited human errors of metabolism.
methylcrotonoyl-coa carboxylase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Mitochondrial Diseases
Compound heterozygous mutations of
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
Mitochondrial Myopathies
Apoptosis in metabolic myopathies.
Mucopolysaccharidosis I
Efficiency of metabolic screening in childhood cardiomyopathies.
Mucositis
Strategies to Increase the Production of Biosynthetic Riboflavin.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy.
An unusual case of severe high anion gap metabolic acidosis.
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
Apoptosis in metabolic myopathies.
Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency.
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Characterizing the transcriptional regulation of let-721, a Caenorhabditis elegans homolog of human electron flavoprotein dehydrogenase.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid ?-oxidation, and attenuates NLRP3 inflammasome activation.
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient.
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients.
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.
Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency.
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Effect of a Sodium and Calcium DL-?-Hydroxybutyrate Salt in Healthy Adults.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.
Electron transfer flavoprotein deficiency: functional and molecular aspects.
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum).
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States.
ETF dehydrogenase advances in molecular genetics and impact on treatment.
ETF-QO Mutants Uncoupled Fatty Acid ?-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Ethylene Glycol Monomethyl Ether-Induced Toxicity is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family.
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
Fatty acid oxidation defects in muscle.
Fatty Acid oxidation disorders in a chinese population in taiwan.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.
Glutaric Aciduria Type II With Ketosis in a Male Infant.
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism.
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Ketone body therapy with D/L-?-hydroxybutyric acid solution in severe MADD.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM.
Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Lipid storage myopathies: Current treatments and future directions.
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Lipolysis and lipophagy in lipid storage myopathies.
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Magnetic resonance spectroscopic characteristics of glutaric aciduria type II.
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).
Metabolic lipid muscle disorders: biomarkers and treatment.
Metabolism of deuterium-labeled nonanoic acids in the riboflavin-deficient rat model of multiple acyl-CoA dehydrogenase deficiency.
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment.
Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with an increased anion gap.
Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report.
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Neurological disorders that may deteriorate with intensive physical rehabilitation.
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.
Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency--capacity of the choline oxidation pathway for methylation in vivo.
Quantification of hypoglycin A as butyl ester.
Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations.
Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation.
Riboflavin transport and metabolism in humans.
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.
Role of RNA in Molecular Diagnosis of MADD Patients.
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree.
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.
Some notes on fatal acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in a two-year-old warmblood stallion and European tar spot (Rhytisma acerinum).
Spectrum of metabolic myopathies.
State of the art in muscle lipid diseases.
Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
The electron transfer flavoprotein: Ubiquinone oxidoreductases.
The story of equine atypical myopathy: a review from the beginning to a possible end.
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Treatment Opportunities in Patients With Metabolic Myopathies.
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ(10)).
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Vitamins and inherited human errors of metabolism.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Clinical investigation in one patient with multiple acyl-CoA dehydrogenase deficiency and hearing loss].
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency]
[Glutaric aciduria type 2 (multiple acyl-CoA dehydrogenase deficiency)]
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[Lipid storage myopathies : A clinical and pathobiochemical challenge.]
[Metabolic defects with hypoketotic hypoglycemia]
[Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis.]
[Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings]
[Muscle weakness and early stages of liver failure in a 22-year-old man].
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Muscle Weakness
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
A novel ETFDH mutation in an adult patient with late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Muscular Diseases
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: an adult case.
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum).
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States.
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Genotype-based databases for variants causing rare diseases.
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Lipolysis and lipophagy in lipid storage myopathies.
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report.
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Spectrum of metabolic myopathies.
State of the art in muscle lipid diseases.
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
[Lipid storage myopathies : A clinical and pathobiochemical challenge.]
Myalgia
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.
Myositis
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
nadh:ubiquinone reductase (h+-translocating) deficiency
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Neoplasm Metastasis
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Neoplasms
Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis.
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Prognostic Value of the Overexpression of Fatty Acid Metabolism-Related Enzymes in Squamous Cell Carcinoma of the Head and Neck.
Neurologic Manifestations
Disturbance of energy and redox homeostasis and reduction of Na(+),K(+)-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
Inborn errors of isoleucine degradation: a review.
Optic Atrophy, Hereditary, Leber
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Optic Nerve Diseases
Clinical Therapeutic Management of Human Mitochondrial Disorders.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Pancreatitis
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Perinatal Death
Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
Peripheral Nervous System Diseases
Investigation of adult-onset multiple Acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
phenylalanine 4-monooxygenase deficiency
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Phenylketonurias
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Protein misfolding and degradation in genetic diseases.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Polymyositis
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
Propionic Acidemia
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Renal handling of carnitine in secondary carnitine deficiency disorders.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Protein Deficiency
Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency.
Proteostasis Deficiencies
Protein Misfolding Diseases and Therapeutic Approaches.
pyruvate dehydrogenase (nadp+) deficiency
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Pyruvate Dehydrogenase Complex Deficiency Disease
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Respiratory Insufficiency
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Reye Syndrome
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism.
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Rhabdomyolysis
A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure.
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].
Riboflavin Deficiency
FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation.
[Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency]
short-chain 2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Compound heterozygous mutations of
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Spastic Paraplegia, Hereditary
Protein Misfolding Diseases and Therapeutic Approaches.
Starvation
Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation.
Effects of glucose starvation on the oxidation of fatty acids by maize root tip mitochondria and peroxisomes: evidence for mitochondrial fatty acid beta-oxidation and acyl-CoA dehydrogenase activity in a higher plant.
Transcriptional regulation of the sulfate-starvation-induced gene sfnA by a sigma54-dependent activator of Pseudomonas putida.
Stomatitis
Strategies to Increase the Production of Biosynthetic Riboflavin.
Syncope
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Tachycardia
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Tachycardia, Ventricular
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Thrombosis
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Tuberculosis
Cloning and expression of an acyl-CoA dehydrogenase from Mycobacterium tuberculosis.
Functional annotation of putative fadE9 of Mycobacterium tuberculosis as isobutyryl-CoA dehydrogenase involved in valine catabolism.
Unraveling Cholesterol Catabolism in Mycobacterium tuberculosis: ChsE4-ChsE5 ?2?2 Acyl-CoA Dehydrogenase Initiates ?-Oxidation of 3-Oxo-cholest-4-en-26-oyl CoA.
Tyrosinemias
Impact of Inborn Errors of Metabolism on Admission in a Neonatal Intensive Care Unit-A Prospective Cohort Study.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Vitamin E Deficiency
Clinical Therapeutic Management of Human Mitochondrial Disorders.