|2-Methylbutyryl-CoA dehydrogenase deficiency|
|Classification and external resources|
2-Methylbutyryl-CoA dehydrogenase deficiency, also called 2-Methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), is an autosomal recessive metabolic disorder. It causes the body to be unable to process the amino acid isoleucine properly.
Signs and symptoms 
Cause and genetics 
The disorder is caused by a mutation in the ACADSB gene, located on the long arm of human chromosome 10 (10q25-q26). It is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 10 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
- Online 'Mendelian Inheritance in Man' (OMIM) 2-Methylbutyryl-CoA dehydrogenase deficiency -610006
- Kanavin, O. J.; Woldseth, B.; Jellum, E.; Tvedt, B.; Andresen, B. S.; Stromme, P. (Sep 2007). "2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: A case report" (Free full text). Journal of Medical Case Reports 1: 98. doi:10.1186/1752-1947-1-98. PMC 2045671. PMID 17883863.
- Sass, J.; Ensenauer, R.; Roschinger, W.; Reich, H.; Steuerwald, U.; Schirrmacher, O.; Engel, K.; Haberle, J. et al. (Jan 2008). "2-Methylbutyryl-coenzyme a dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism". Molecular Genetics and Metabolism 93 (1): 30–35. doi:10.1016/j.ymgme.2007.09.002. PMID 17945527.
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