Disease on EC 3.1.2.4 - 3-hydroxyisobutyryl-CoA hydrolase
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DISEASE 
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3-hydroxyisobutyryl-coa hydrolase deficiency
3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.
3-hydroxyisobutyryl-coa hydrolase deficiency
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis.
3-hydroxyisobutyryl-coa hydrolase deficiency
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.
3-hydroxyisobutyryl-coa hydrolase deficiency
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
3-hydroxyisobutyryl-coa hydrolase deficiency
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
3-hydroxyisobutyryl-coa hydrolase deficiency
A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia.
3-hydroxyisobutyryl-coa hydrolase deficiency
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
3-hydroxyisobutyryl-coa hydrolase deficiency
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.
3-hydroxyisobutyryl-coa hydrolase deficiency
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
3-hydroxyisobutyryl-coa hydrolase deficiency
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
3-hydroxyisobutyryl-coa hydrolase deficiency
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
3-hydroxyisobutyryl-coa hydrolase deficiency
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
3-hydroxyisobutyryl-coa hydrolase deficiency
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
3-hydroxyisobutyryl-coa hydrolase deficiency
MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency.
3-hydroxyisobutyryl-coa hydrolase deficiency
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
3-hydroxyisobutyryl-coa hydrolase deficiency
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
3-hydroxyisobutyryl-coa hydrolase deficiency
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
3-hydroxyisobutyryl-coa hydrolase deficiency
Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.
3-hydroxyisobutyryl-coa hydrolase deficiency
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
3-hydroxyisobutyryl-coa hydrolase deficiency
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
3-hydroxyisobutyryl-coa hydrolase deficiency
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
3-hydroxyisobutyryl-coa hydrolase deficiency
[Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review].
Acidosis
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis.
Ataxia
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Basal Ganglia Diseases
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Colorectal Neoplasms
Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer.
Dystonia
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Dystonia
A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia.
Dystonia
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Hemochromatosis
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Infections
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Ketosis
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.
Leigh Disease
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Leigh Disease
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Leigh Disease
Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism.
Leigh Disease
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Leigh Disease
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Leigh Disease
[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
Liver Diseases
Human liver disease decreases methacrylyl-CoA hydratase and beta-hydroxyisobutyryl-CoA hydrolase activities in valine catabolism.
Liver Failure
The valine catabolic pathway in human liver: effect of cirrhosis on enzyme activities.
Metabolic Diseases
3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.
Mitochondrial Diseases
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
Movement Disorders
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Neoplasms
Sustained complete response to CTLA-4 blockade in a patient with metastatic, castration-resistant prostate cancer.
Neoplasms
Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer.
Neurodegenerative Diseases
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Neurodegenerative Diseases
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Neurodegenerative Diseases
Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.
Prostatic Neoplasms
Sustained complete response to CTLA-4 blockade in a patient with metastatic, castration-resistant prostate cancer.
Pyruvate Dehydrogenase Complex Deficiency Disease
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
Syndactyly
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
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