Section 42
Chapter 41,358

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
Accession: 041357239

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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.

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