title: A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle.
abstract: A 20-year-old man was shown to have a deficiency of carnitine palmitoyltransferase (CPT) II in skeletal muscle. The evidence was: (i) there was no significant oxidation of [9,10-3H]-palmitate or of [1-14C]palmitate in mitochondrial fractions from fresh skeletal muscle from the patient; (ii) all the CPT activity in a homogenate of fresh muscle from the patient was overt (CPT I) with no increase in activity after the inner membrane was disrupted; (iii) all the CPT activity in the patient's muscle was inhibited by malonyl-CoA; and (iv) an immunoreactive peptide of 67 kDa corresponding to CPT II, present in mitochondria from controls, was absent in those from the patient.
authors.affiliation: Department of Neurology, Medical School, University of Newcastle upon Tyne, England.
authors.forename: R
authors.initials: R
authors.lastname: Singh
authors.forename: I M
authors.initials: IM
authors.lastname: Shepherd
authors.forename: J P
authors.initials: JP
authors.lastname: Derrick
authors.forename: R R
authors.initials: RR
authors.lastname: Ramsay
authors.forename: H S
authors.initials: HS
authors.lastname: Sherratt
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency*; D007700:Kinetics; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D009132:Muscles / Q000201:enzymology*; D019308:Palmitic Acid; D010169:Palmitic Acids / Q000378:metabolism
chemical_list: D007527:Isoenzymes; D010169:Palmitic Acids; D019308:Palmitic Acid; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase