title: Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
abstract: The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling techniques, a structure could be identified anchoring the protein in the membrane. Only one of the five mutations (Y479F) is located within this region.
authors.affiliation: Klinik und Poliklinik für Neurologie, Martin-Luther-Universität, Halle/Saale, Germany. thomas.wieser@medizin.uni-halle.de
authors.forename: T
authors.initials: T
authors.lastname: Wieser
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
authors.forename: K
authors.initials: K
authors.lastname: Olek
authors.forename: T
authors.initials: T
authors.lastname: Hermann
authors.forename: S
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002334:Carnitine O-Palmitoyltransferase / Q000737:chemistry / Q000172:deficiency* / Q000502:physiology; D002462:Cell Membrane / Q000201:enzymology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003198:Computer Simulation; D004252:DNA Mutational Analysis; D019077:Helix-Turn-Helix Motifs; D006801:Humans; D008051:Lipid Bilayers / Q000737:chemistry; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009212:Myoglobinuria / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D011487:Protein Conformation; D017434:Protein Structure, Tertiary; D012206:Rhabdomyolysis / Q000201:enzymology / Q000235:genetics*; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
chemical_list: D008051:Lipid Bilayers; D002334:Carnitine O-Palmitoyltransferase