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Disease on EC 1.1.1.178 - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase

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DISEASE
TITLE OF PUBLICATION
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3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
17?-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system.
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
Undetectable Levels of CSF Amyloid-? Peptide in a Patient with 17?-Hydroxysteroid Dehydrogenase Deficiency.
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17beta-hydroxysteroid dehydrogenase 10 deficiency.
[Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency]
3-hydroxyacyl-coa dehydrogenase deficiency
[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency]
Acidosis
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Alzheimer Disease
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.
Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
Lateralization of 17beta-hydroxysteroid dehydrogenase type 10 in hippocampi of demented and psychotic people.
Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase.
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Undetectable Levels of CSF Amyloid-? Peptide in a Patient with 17?-Hydroxysteroid Dehydrogenase Deficiency.
Ancylostomiasis
Hookworm larval infectivity, arrest and amphiparatenesis: the Caenorhabditis elegans Daf-c paradigm.
Brain Diseases
17?-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system.
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Cardiomyopathies
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Mutation or knock-down of 17?-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Cerebral Palsy
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Colorectal Neoplasms
17?-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Congenital Hyperinsulinism
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Diabetes Mellitus, Type 2
The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study.
Down Syndrome
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
Drug Resistant Epilepsy
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Hepatitis
Laser capture microdissection in comparative proteomic analysis of hepatocellular carcinoma.
Proteome analysis of hepatocellular carcinoma by laser capture microdissection.
Hyperinsulinism
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways.
Hypoglycemia
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Infections
Hookworm larval infectivity, arrest and amphiparatenesis: the Caenorhabditis elegans Daf-c paradigm.
Intellectual Disability
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
Learning Disabilities
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Mental Retardation, X-Linked
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Mitochondrial Diseases
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
Multiple Sclerosis
Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
Neoplasms
17?-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Neurodegenerative Diseases
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Neurologic Manifestations
Inborn errors of isoleucine degradation: a review.
Parkinson Disease
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Pheochromocytoma
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Prostatic Hyperplasia
Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.