title: Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
abstract: 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.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: P A
authors.initials: PA
authors.lastname: Wood
authors.forename: B A
authors.initials: BA
authors.lastname: Amendt
authors.forename: W J
authors.initials: WJ
authors.lastname: Rhead
authors.forename: D S
authors.initials: DS
authors.lastname: Millington
authors.forename: F
authors.initials: F
authors.lastname: Inoue
authors.forename: D
authors.initials: D
authors.lastname: Armstrong
mesh_terms: 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
chemical_list: 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