Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. Pediatr Res 1989 Jan;25(1):38-43
Date
01/01/1989Pubmed ID
2919115DOI
10.1203/00006450-198901000-00010Scopus ID
2-s2.0-0024496544 (requires institutional sign-in at Scopus site) 86 CitationsAbstract
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.
Author List
Wood PA, Amendt BA, Rhead WJ, Millington DS, Inoue F, Armstrong DAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acyl-CoA DehydrogenaseAnimals
Carnitine
Disease Models, Animal
Fatty Acid Desaturases
Fatty Acids
Fatty Acids, Volatile
Gas Chromatography-Mass Spectrometry
Glycine
Malonates
Mice
Mice, Inbred BALB C
Oxidation-Reduction
Succinates
