2-methylbutyryl-CoA dehydrogenase deficiency
Other Names for this Disease
- 2-methylbutyric aciduria
- SBCAD deficiency
- Short branched-chain acyl-CoA dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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. Genetics 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
Please contact us with your questions about 2-methylbutyryl-CoA dehydrogenase deficiency. We will answer your question and update these pages with new resources and information.
- 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.
- The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.