title: Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
abstract: Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid metabolism characterized in its adult form by attacks of myalgia and myoglobinuria. We analyzed a cohort of 22 CPT II-deficient patients (representing 20 independent probands) to correlate clinical presentation and molecular data. The common p.Ser113Leu mutation was detected with an allelic frequency of 67.5% (27/40), in association with mild adult-onset phenotype. In addition to the p.Ser113Leu mutation, other 10 disease-causing mutations were identified, 5 of which were novel. They are a micro-insertion within exon 5, three aminoacid substitutions within the coding region, namely p.Arg151Trp, p.Asp576Gly, p.Arg247Trp and a truncating stop codon mutation (p.Arg554Ter). Our data expand the spectrum of CPT II mutations and help to evaluate possible correlations between genotypes and phenotypes.
authors.affiliation: Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS, Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Corti
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: D
authors.initials: D
authors.lastname: Ronchi
authors.forename: O
authors.initials: O
authors.lastname: Musumeci
authors.forename: M
authors.initials: M
authors.lastname: Aguennouz
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.forename: C
authors.initials: C
authors.lastname: Lamperti
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology; D009468:Neuromuscular Diseases / Q000209:etiology; D010084:Oxidation-Reduction; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D005227:Fatty Acids; D004247:DNA; D002334:Carnitine O-Palmitoyltransferase