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.
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