Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
Journal Article (Journal Article)
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.
- Wood, PA; Amendt, BA; Rhead, WJ; Millington, DS; Inoue, F; Armstrong, D
- January 1989
Volume / Issue
- 25 / 1
Start / End Page
- 38 - 43
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States