Acyl-coa dehydrogenase, short-chain, deficiency of

Overview

What is Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

Short chain acyl-CoA dehydrogenase deficiency, or SCADD, is a genetic disease in which the body is not able to properly break down fat to create energy. SCADD is one of a group of disorders called fatty acid oxidation disorders. The body usually gets its energy by breaking down (sometimes called "burning") sugars and fats. People with SCADD are able to break down sugar normally but, because of a problem in the gene called ACADS they are not able to break down a type of fat called short chain fatty acids.

Most people who have SCADD do not have any symptoms. At this time (2016), researchers do not understand why some people with SCADD have symptoms and others do not. For people with SCADD who do have symptoms, these symptoms include problems eating, low muscle tone (they may be floppy), delays in development, vomiting, low energy (lethargy) and seizures in infants and muscle cramps or pain and difficulty with exercise or episodes of nausea, vomiting and shortness of breath in older children and adults.

When a person with SCADD is healthy and eating regularly, they are able to get enough energy from the sugars in their diet and they appear totally healthy. However, when certain people with SCADD go a long time without eating and their bodies begin to burn fat for energy, they can become sick with a metabolic crisis, which can cause excessive sleepiness or irritability, vomiting or diarrhea, and increased levels of acids in the blood (metabolic acidosis). If a metabolic crisis is not treated, the child may have seizures, problems breathing, or coma. Common reasons for going without food include illness, operations, or when babies begin to sleep through the night.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/acyl-coa-dehydrogenase-short-chain-deficiency-of-8472/overview/5979 • DATE UPDATED: 2016-05-29

References

New England Consortium of Metabolic Programs. (2010). SCADD: A Guide for Parents of Babies Recently Screened for SCADD. Retrieved from New England Consortium of Metabolic Programs: http://newenglandconsortium.org/for-families/other-metabolic-disorders/fatty-acid-oxidation-disorders/scadd/

Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2014 Aug 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.http://www.ncbi.nlm.nih.gov/books/NBK63582/

Longo, N. (2011). Short-chain acyl-CoA deficiency (SCADD). https://www.medicalhomeportal.org/newborn/short-chain-acyl-coa-deficiency

Screening, Technology And Research in Genetics (STAR-G). (2016). Genetic Fact Sheets for Parents: SCADD. http://www.newbornscreening.info/Parents/fattyaciddisorders/SCADD.html

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