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2-Methylbutyryl-CoA dehydrogenase deficiency



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.


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "2-Methylbutyryl-CoA_dehydrogenase_deficiency". A list of authors is available in Wikipedia.
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