Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
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
P A
PA
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Amendt
B A
BA
Rhead
W J
WJ
Millington
D S
DS
Inoue
F
F
Armstrong
D
D
D042964:Acyl-CoA Dehydrogenase; D000818:Animals; D002331:Carnitine / Q000097:blood / Q000652:urine; D004195:Disease Models, Animal; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism / Q000652:urine*; D005232:Fatty Acids, Volatile / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D008314:Malonates / Q000652:urine; D051379:Mice; D008807:Mice, Inbred BALB C; D010084:Oxidation-Reduction; D013386:Succinates / Q000652:urine
D005227:Fatty Acids; D005232:Fatty Acids, Volatile; D008314:Malonates; D013386:Succinates; C043029:N-butyrylglycine; C038080:ethylmalonic acid; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine; D005998:Glycine; C041105:monomethyl succinate