| 2-Methylbutyryl-CoA dehydrogenase deficiency | |
| Classification and external resources | |
 2-Methylbutyryl-CoA |
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| OMIM | 610006 |
|---|---|
| DiseasesDB | 34413 |
| eMedicine | / |
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.
Contents |
Cause
It is caused by a mutation in the HADH2 gene,[1] 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
- ^ Ofman R, Ruiter JP, Feenstra M, et al. (2003). "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene". Am. J. Hum. Genet. 72 (5): 1300–7. doi:. PMID 12696021. PMC: 1180283. http://linkinghub.elsevier.com/retrieve/pii/AJHG024785.
External links
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