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Genetic and Rare Diseases Information Center (GARD)

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Isobutyryl-CoA dehydrogenase deficiency

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Other Names for this Disease

  • ACAD8 deficiency
  • Acyl-CoaA dehydrogenase family, member 8, deficiency of
  • IBD 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.

Overview

Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism.[1] The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner.[2]
Last updated: 2/8/2010

References

  1. Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79159. Accessed 2/8/2010.
  2. Isobutyryl-CoA dehydrogenase deficiency. Genetics Home Reference (GHR). June 2010; http://www.ghr.nlm.nih.gov/condition=isobutyrylcoenzymeadehydrogenasedeficiency. Accessed 8/5/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Isobutyryl-CoA dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
  • 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

  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Isobutyryl-CoA dehydrogenase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ACAD8 deficiency
  • Acyl-CoaA dehydrogenase family, member 8, deficiency of
  • IBD 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.