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Isobutyryl-CoA dehydrogenase deficiency
Other Names for this Disease
- ACAD8 deficiency
- Acyl-CoaA dehydrogenase family, member 8, deficiency of
- IBD deficiency
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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.Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism.
Last updated: 2/8/2010
- Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79159. Accessed 2/8/2010.
- Isobutyryl-coenzyme A dehydrogenase deficiency. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition=isobutyrylcoenzymeadehydrogenasedeficiency. Accessed 2/8/2010.
- 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
- 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.
- 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.