Disease on EC 1.1.1.178 - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
17?-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
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.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
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.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-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.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase 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.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Undetectable Levels of CSF Amyloid-? Peptide in a Patient with 17?-Hydroxysteroid Dehydrogenase Deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17beta-hydroxysteroid dehydrogenase 10 deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
[Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
3-hydroxy-2-methylbutyryl-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.
Alzheimer Disease
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Alzheimer Disease
Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.
Alzheimer Disease
Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
Alzheimer Disease
Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.
Alzheimer Disease
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Alzheimer Disease
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
Alzheimer Disease
Lateralization of 17beta-hydroxysteroid dehydrogenase type 10 in hippocampi of demented and psychotic people.
Alzheimer Disease
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Alzheimer Disease
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.
Brain Diseases
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.
Cardiomyopathies
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Cardiomyopathies
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.
Hyperinsulinism
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
Hyperinsulinism
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
Hyperinsulinism
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Hyperinsulinism
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Hyperinsulinism
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.
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.
Mitochondrial Diseases
Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.
Mitochondrial Diseases
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
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.
Neoplasms
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.
Neurodegenerative Diseases
Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
Neurodegenerative Diseases
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Parkinson Disease
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Parkinson 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.
html completed