Abstract
ABSTRACT: 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 Nbutyrylglycine, 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 β-oxidation defects. This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases.
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Wood, P., Amendt, B., Rhead, W. et al. Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice. Pediatr Res 25, 38–43 (1989). https://doi.org/10.1203/00006450-198901000-00010
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DOI: https://doi.org/10.1203/00006450-198901000-00010
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