Short-chain acyl-CoA dehydrogenase deficiency
Other Names for this Disease
- SCAD deficiency
- ACADS deficiency
- SCADH deficiency
- Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency
- Short-chain acyl-coenzyme A dehydrogenase 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 mutations in the ACADS gene. These mutations lead to a shortage (deficiency) 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-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: 2/5/2016
- Short-chain acyl-CoA dehydrogenase deficiency. Genetics Home Reference (GHR). May 2015; http://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency.
- Jerry Vockley, MD, PhD. Short-Chain Acyl CoA Dehydrogenase Deficiency (SCAD). National Organization for Rare Disorders (NORD). 2013; http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/.
- 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.
- 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 Short-chain acyl-CoA dehydrogenase deficiency. Click on the link to view a sample search on this topic.
- 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.