Disease on EC 1.3.8.4 - isovaleryl-CoA dehydrogenase

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DISEASE
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2-methylacyl-coa dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
acetyl-coa c-acetyltransferase deficiency
Screening for defects of branched-chain amino acid metabolism.
acyl-coa dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
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.
Adrenal Hyperplasia, Congenital
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Biotinidase Deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Congenital Hypothyroidism
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cystic Fibrosis
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
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.
Homocystinuria
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
hydroxymethylglutaryl-coa lyase deficiency
Screening for defects of branched-chain amino acid metabolism.
Hyperargininemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
isovaleryl-coa dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
2-Methylbutyrylglycine induces lipid oxidative damage and decreases the antioxidant defenses in rat brain.
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
Inborn errors of isoleucine degradation: a review.
Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.
Isovaleric acidemia with promyelocytic myeloproliferative syndrome.
L-carnitine therapy in isovaleric acidemia.
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Screening for defects of branched-chain amino acid 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.
long-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Maple Syrup Urine Disease
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
medium-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Metabolic Diseases
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
[Pancytopenia and metabolic decompensation in a neonate].
Metabolic Syndrome
Broad connections in the Arabidopsis seed metabolic network revealed by metabolite profiling of an amino acid catabolism mutant.
methylcrotonoyl-coa carboxylase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
methylglutaconyl-coa hydratase deficiency
Screening for defects of branched-chain amino acid metabolism.
Muscular Diseases
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Neoplasms
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
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.
Seizures
Proteomic analysis of stargazer mutant mouse neuronal proteins involved in absence seizure.
Starvation
The differential impact of amino acids on OXPHOS system activity following carbohydrate starvation in Arabidopsis cell suspensions.
Thrombosis
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.