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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Overview

2-methylbutyryl-CoA dehydrogenase deficiency is an 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.[1][[2] This condition is caused by mutations in the ACADSB gene. It is inherited in an autosomal recessive pattern.[1] Treatment, when needed, includes a low-protein diet, specialty formulas, foods and supplements, and careful observation if illness occurs.[2] 
Last updated: 4/22/2016

References

  1. 2-methylbutyryl-coenzyme A dehydrogenase deficiency. Genetics Home Reference. April 2007; https://ghr.nlm.nih.gov/condition/2-methylbutyryl-coa-dehydrogenase-deficiency.
  2. 2-methylbutyryl CoA dehydrogenase deficiency. Screening, Technology and Research in Genetics (STAR-G). August 29, 2013; http://www.newbornscreening.info/Parents/organicaciddisorders/2MBC.html.
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Basic Information

In Depth Information

  • 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.
Other Names for this Disease
  • SBCAD deficiency
  • 2-methylbutyric aciduria
  • 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.