Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.


2-methylbutyryl-CoA dehydrogenase deficiency is a 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. [1]
Last updated: 8/13/2008


  1. 2-methylbutyryl-coenzyme A dehydrogenase deficiency. Genetics Home Reference . April 2007; Accessed 8/11/2008.
Your Questions Answered
by 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.

Basic 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.