Isobutyryl-CoA dehydrogenase deficiency
Other Names for this Disease
- IBD deficiency
- ACAD8 deficiency
- Acyl-CoaA dehydrogenase family, member 8, deficiency of
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 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. Treatment may include the use of L-carnitine (a safe and natural substance that helps the body's cells make energy), frequent meals, and a low-valine diet.Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism.
Last updated: 6/19/2016
- Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79159.
- Isobutyryl-CoA dehydrogenase deficiency. Genetics Home Reference (GHR). June 2010; https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency.
- Organic Acid Oxidation Disorders : Isobutyryl-CoA dehydrogenase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/ICoA.html.
- 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.
- 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.
- 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.