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2-methylbutyryl-CoA dehydrogenase deficiency
Other Names for this Disease
- 2-methylbutyric aciduria
- SBCAD deficiency
- Short branched-chain acyl-CoA dehydrogenase deficiency
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metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability. 2-methylbutyryl-CoA dehydrogenase deficiency is a
Last updated: 8/13/2008
- 2-methylbutyryl-coenzyme A dehydrogenase deficiency. Genetic Home Reference . April 2007; http://ghr.nlm.nih.gov/condition=2methylbutyrylcoenzymeadehydrogenasedeficiency. Accessed 8/11/2008.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
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- The Organic Acidemia Association has an information page on organic acidemias. Click on Organic Acidemia Association to view the information page.
- The Region4Genetics Web site has an information page on organic acidemias. Click on Region4Genetics to view the information page.
- The Save Babies Through Screening Foundation, Inc. has an information page on 2-Methylbutyryl-Co A dehydrogenase deficiency. Click on the link above to view the information page.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss 2-methylbutyryl-CoA dehydrogenase deficiency. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.