Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

S. Corti, A. Bordoni, D. Ronchi, O. Musumeci, M. Aguennouz, A. Toscano, C. Lamperti, N. Bresolin, G. P. Comi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)97-103
Number of pages7
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - Mar 15 2008


  • Carnitine palmitoyltransferase II
  • CPT2
  • Fatty acid oxidation
  • Genotype-phenotype
  • Mutation
  • Skeletal muscle

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)


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