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Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice
Journal article   Open access   Peer reviewed

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice

Philip A Wood, Brad A Amendt, William J Rhead, David S Millington, Fumio Inoue and Dawna Armstrong
Pediatric research, Vol.25(1), pp.38-43
01/1989
DOI: 10.1203/00006450-198901000-00010
PMID: 2919115
url
https://doi.org/10.1203/00006450-198901000-00010View
Published (Version of record) Open Access

Abstract

A murine model for short-chain acyl-coen-zyme 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 β-oxidation defects. This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases. © 1989 International Pediatric Research Foundation, Inc.

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