Acyl-coa dehydrogenase, short-chain, deficiency of
Causes
What causes Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
SCADD is caused by changes (mutations or mistakes) in the gene called ACADS which provides instructions for making the enzyme or protein called "short chain acyl-coenzyme A dehydrogenase" or SCAD which breaks down fat for energy. Each person has two copies of the ACADS gene. In people with SCADD, both copies of the ACADS gene have a mutation (mistake).
References
- 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/