Short-chain acyl-coenzyme A dehydrogenase deficiency in mice
Wood, P.A.; Amendt, B.A.; Rhead, W.J.; Millington, D.S.; Inoue, F.; Armstrong, D.
Pediatric Research 25(1): 38-43
ISSN/ISBN: 0031-3998 PMID: 2919115 DOI: 10.1203/00006450-198901000-00010
A murine model for short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency has been identified and characterized in BALB/cByJ mice. These mice have undetectable SCAD activity, severe organic aciduria; excreting ethylmalonic and methylsuccinic acids and N-butyrylglycine, and develop a fatty liver upon fasting or dietary fat challenge. The mutant mice develop hypoglycemia after an 18-h fast, and have elevated urinary and muscle butyrylcarnitine concentrations. Most of these findings parallel those of human disorders associated with SCAD deficiency and other beta-oxidation defects. This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases.