title: Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
abstract: Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. We have identified a missense mutation (Ser113Leu) in one patient with the classical muscular symptomatology. Transfection experiments in COS cells demonstrate that the mutation drastically depresses the catalytic activity of CPT II. The mutation results in normal synthesis but a markedly reduced steady-state level of the protein, indicating decreased stability of mutant CPT II. The Ser113Leu mutation is the most frequent cause of CPT II deficiency. The mutation can be detected easily by restriction analysis enabling molecular diagnosis of most patients and identification of heterozygous carriers.
authors.affiliation: Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: E
authors.initials: E
authors.lastname: Verderio
authors.forename: F
authors.initials: F
authors.lastname: Dworzak
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: P
authors.initials: P
authors.lastname: Cavadini
authors.forename: S
authors.initials: S
authors.lastname: DiDonato
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004795:Enzyme Stability / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009212:Myoglobinuria / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation; D012008:Recurrence
chemical_list: D004247:DNA; D002334:Carnitine O-Palmitoyltransferase