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Genetic and Rare Diseases Information Center (GARD)

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Short chain acyl CoA dehydrogenase deficiency


Other Names for this Disease
  • ACADS deficiency
  • Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency
  • SCAD deficiency
  • SCADH deficiency
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Overview


Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy.[1] This condition belongs to a group of disorders known as fatty acid oxidation disorders (FOD). SCAD deficiency is caused by the lack of an enzyme known as short-chain acyl-CoA dehydrogenase, which is involved in the breakdown of short-chain fatty acids. When not enough of this enzyme is present, excessive amounts of fatty acids and ammonia accumulate in the body.[2] The symptoms of SCAD deficiency include a lack of energy, poor growth, and developmental delay. Treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting).[1]
Last updated: 10/6/2008

References

  1. Short-chain acyl-coenzyme A dehydrogenase deficiency. Genetics Home Reference (GHR). July 2006; http://ghr.nlm.nih.gov/condition=shortchainacylcoenzymeadehydrogenasedeficiency. Accessed 5/1/2008.
  2. Jerry Vockley, MD, PhD. Short-Chain Acyl-CoA Dehydrogenase Deficiency. National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Short%20Chain%20Acyl%20CoA%20Dehydrogenase%20Deficiency%20%28SCAD%29. Accessed 5/2/2008.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Short chain acyl CoA dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Save Babies Through Screening Foundation's website has an information page on short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Click on Save Babies Through Screening Foundation to view this information page. 
  • 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 Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.

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 Short chain acyl CoA dehydrogenase deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles