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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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 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. 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).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.
Last updated: 10/6/2008
- Short-chain acyl-coenzyme A dehydrogenase deficiency. Genetics Home Reference (GHR). July 2006; http://ghr.nlm.nih.gov/condition=shortchainacylcoenzymeadehydrogenasedeficiency. Accessed 5/1/2008.
- 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.
On this page
- 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.
- 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.
- 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 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) database contains genetics resources that discuss Short chain acyl CoA dehydrogenase deficiency. Click on the link to go to OMIM and review these resources.
- 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
- Bok, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder. Pediatrics, 2003;112:1152-1155.