title: Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
abstract: Two symptomatic patients with heterozygous carnitine palmitoyltransferase II (CPT II) deficiency are reported. Patient 1, a 21-year-old female professional tennis player, suffered from exercise-induced attacks of muscle pain, burning sensations and proximal weakness. Patient 2, a 30-year-old male amateur marathon runner developed muscle cramps and rhabdomyolysis upon extensive exercise and insolation-induced fever. In both patients, the common p.S113L mutation was found in heterozygote state. No second mutation could be found upon sequencing of all the exons of CPT2 gene including exon-intron boundaries. Biochemically, residual CPT activity in muscle homogenate upon inhibition by malonyl-CoA and Triton-X-100 was intermediate between controls and patients with mutations on both alleles. Although CPT II deficiency is an autosomal recessive disorder, the reported patients indicate that heterozygotes might also have typical attacks of myalgia, pareses or rhabdomyolysis.
authors.affiliation: Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle (Saale), Germany. pushpa.joshi@medizin.uni-halle.de
authors.forename: Pushpa Raj
authors.initials: PR
authors.lastname: Joshi
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005335:Fever of Unknown Origin / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007438:Introns / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D009120:Muscle Cramp / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D012016:Reference Values; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000235:genetics; D012420:Running; D013715:Tennis; D055815:Young Adult
chemical_list: D002334:Carnitine O-Palmitoyltransferase