2-Methylbutyryl-CoA dehydrogenase deficiency

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Caption = 2-Methylbutyryl-CoA
DiseasesDB = 34413
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OMIM = 610006
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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.

Cause

It is caused by a mutation in the "HADH2" gene, [cite journal |author=Ofman R, Ruiter JP, Feenstra M, "et al" |title=2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene |journal=Am. J. Hum. Genet. |volume=72 |issue=5 |pages=1300–7 |year=2003 |pmid=12696021 |pmc=1180283 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/AJHG024785] and is usually diagnosed in boys. Its frequency is unknown.

Presentation

Untreated MBHD can lead to progressive loss of motor skills, to mental retardation and to epilepsy.

References

External links

* [http://www.wadsworth.org/newborn/babhealth.htm Short descriptions of genetic disorders from wadsworth.org]