2-Methylbutyryl-CoA dehydrogenase deficiency
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2-Methylbutyryl-CoA dehydrogenase deficiency, also called 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency or MBHD, is an inherited disorder in which the body is unable to process the amino acid isoleucine properly. It is caused by a mutation in the HADH2 gene, and is usually diagnosed in boys. Its frequency is unknown.
Untreated MBHD can lead to progressive loss of motor skills, to mental retardation and to epilepsy.
- 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene
- Short descriptions of genetic disorders from wadsworth.org