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Genetic and Rare Diseases Information Center (GARD)

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2-methylbutyryl-CoA dehydrogenase deficiency


Other Names for this Disease
  • 2-methylbutyric aciduria
  • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
  • SBCAD deficiency
  • Short branched-chain acyl-CoA dehydrogenase deficiency
  • Short/branched-chain acyl-coA dehydrogenase deficiency
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Overview

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

References

  1. 2-methylbutyryl-coenzyme A dehydrogenase deficiency. Genetics Home Reference . April 2007; http://ghr.nlm.nih.gov/condition=2methylbutyrylcoenzymeadehydrogenasedeficiency. Accessed 8/11/2008.
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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
  • 2-methylbutyric aciduria
  • Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
  • SBCAD deficiency
  • Short branched-chain acyl-CoA dehydrogenase 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.