1.1.1.178: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
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For detailed information about 3-hydroxy-2-methylbutyryl-CoA dehydrogenase, go to the full flat file.
Word Map on EC 1.1.1.178
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1.1.1.178
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l-3-hydroxyacyl-coa
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2-methyl-3-hydroxybutyric
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hyperinsulinism
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tiglylglycine
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hydroxyacyl-coas
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choreoathetosis
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medicine
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lchad
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kcnj11
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2-methylacetoacetate
- 1.1.1.178
- l-3-hydroxyacyl-coa
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2-methyl-3-hydroxybutyric
- hyperinsulinism
-
tiglylglycine
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hydroxyacyl-coas
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choreoathetosis
- medicine
- lchad
-
kcnj11
- 2-methylacetoacetate
Reaction
Synonyms
17beta-HSD10, 17beta-hydroxysteroid dehydrogenase type 10, 2-methyl-3-hydroxy-butyryl CoA dehydrogenase, 2-methyl-3-hydroxybutyryl coenzyme A dehydrogenase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase, 3-hydroxyacyl-CoA dehydrogenase type II, dehydrogenase, 2-methyl-3-hydroxybutyryl coenzyme A, HADII, HSD10, MHBD, SCHAD, short chain 3-hydroxyacyl-CoA dehydrogenase, short-chain L-3-hydroxy-2-methylacyl-CoA dehydrogenase, type II 3-hydroxyacyl-CoA dehydrogenase
ECTree
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Engineering
Engineering on EC 1.1.1.178 - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
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D86G
28% residual activity. Mutation causes severe disruption of mitochondrial morphology
L122V
N274S
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nucleotide substitution A740G, inborn mutation involved in lethal X-linked MHBD deficiency
R130C
additional information
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nucleotide substitution C364G, inborn mutation involved in X-linked MHBD deficiency
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nucleotide substitution C388T, inborn mutation involved in lethal X-linked MHBD deficiency
R130C
64% residual activity, mutant is unstable at room temperature and steadily loses enzyme activity. Mutation causes severe disruption of mitochondrial morphology
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10 X-linked MHBD deficiency patient phenotypes, overview
additional information
mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation
additional information
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mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation