Novel mutation in the CPT II gene in a child with periodic febrile myalgiaand myoglobinuria

We have identified a novel missense mutation in the carnitine palmitoyltran sferase II (CPT II) gene in a child with CPT II deficiency characterized cl inically by episodes of myalgia and myoglobinuria induced by intercurrent f ebrile illnesses. The patient was heterozygous for a G-to-A substitution at codon 487, changing an encoded glutamic acid to a lysine (E489K), while th e other allele carried the common S113L mutation. This case enlarges the sp ectrum of mutations in patients with CPT II deficiency, and confirms the as sociation of the S113L mutation with the muscular form.