2-methylbutyryl-CoA dehydrogenase deficiency
Other Names for this Disease
- SBCAD deficiency
- 2-methylbutyric aciduria
- Short branched-chain acyl-CoA dehydrogenase deficiency
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organic acid 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. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma.[ This condition is caused by mutations in the ACADSB gene. It is inherited in an autosomal recessive pattern. Treatment, when needed, includes a low-protein diet, specialty formulas, foods and supplements, and careful observation if illness occurs.2-methylbutyryl-CoA dehydrogenase deficiency is an
Last updated: 4/22/2016
- 2-methylbutyryl-coenzyme A dehydrogenase deficiency. Genetics Home Reference. April 2007; https://ghr.nlm.nih.gov/condition/2-methylbutyryl-coa-dehydrogenase-deficiency.
- 2-methylbutyryl CoA dehydrogenase deficiency. Screening, Technology and Research in Genetics (STAR-G). August 29, 2013; http://www.newbornscreening.info/Parents/organicaciddisorders/2MBC.html.
- The Organic Acidemia Association has an information page on organic acidemias. Click on Organic Acidemia Association 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.