This is an abbreviated version, for detailed information about 3-hydroxy-2-methylbutyryl-CoA dehydrogenase, go to the full flat file.
17beta-HSD10, 2-methyl-3-hydroxy-butyryl CoA dehydrogenase, 2-methyl-3-hydroxybutyryl coenzyme A dehydrogenase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, 3-hydroxyacyl-CoA dehydrogenase type II, dehydrogenase, 2-methyl-3-hydroxybutyryl coenzyme A, HSD10, MHBD, short-chain L-3-hydroxy-2-methylacyl-CoA dehydrogenase
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