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Pediatr Res. 1989 Jan;25(1):38-43.

Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

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1
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

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 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.

[Indexed for MEDLINE]

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