Summary
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.
Zusammenfassung
Es werden zwei symptomatische Patienten mit heterozygotem Carnitine palmitoyltransferase II (CPT II) Mangel beschrieben. Die 21-jährige Patientin 1 ist eine Profi-Tennisspielerin, die unter Attacken von beinbetonten belastungsabhängigen Myalgien und proximalen Paresen litt. Der 30-jährige Patient 2 ist Amateur-Marathonläufer, der nach Insolation und einem nachfolgenden 10 km-Lauf Myalgien, Fieber und eine Rhabdomyolyse entwickelte. Bei beiden Patienten wurde die häufige p.S113L Mutation heterozygot nachgewiesen. Durch die Sequenzierung des CPT 2-Gens konnte keine zweite Mutation gefunden werden. Biochemisch war die CPT Restaktivität in der Muskelbiopsie nach Vorbehandlung mit Malonyl-CoA und Triton-X intermediär zwischen Kontrollen und Patienten mit Mutationen auf beiden Allelen. Obwohl der CPT II-Mangel eine autosomal rezessive Erkrankung ist, wird an den beiden Patienten deutlich, daß auch Heterozygote typische und schwere Attacken von Myalgien, Paresen oder Rhabdomyolyse haben können.
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Joshi, P., Deschauer, M. & Zierz, S. Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. Wien Klin Wochenschr 124, 851–854 (2012). https://doi.org/10.1007/s00508-012-0296-9
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DOI: https://doi.org/10.1007/s00508-012-0296-9