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

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DISEASE
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3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
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.
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.
Clinical variability in 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.
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
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.
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.
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].
Acidosis
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Alzheimer Disease
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.
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.
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.
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.
Down Syndrome
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
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.
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 Disorders
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Mitochondrial Diseases
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
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
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.