Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by describing clinical, biochemical, and genetic features of the disease occurring in early adulthood. Method. Review of the case characteristics and literature review. Results. We report on a 20-year-old man presenting with dyspnea, fatigue, fever, and myoglobinuria. This was the second episode with such symptoms (the previous one being three years earlier). The symptoms occurred after intense physical work, followed by a viral infection resulting in fever treated with NSAIDs. Massive rhabdomyolysis was diagnosed, resulting in acute renal failure necessitating plasmapheresis and hemodialysis, acute hepatic lesion, and respiratory insufficiency. Additionally, our patient had cardiomyopathy with volume overload. After a detailed workup, CPT II deficiency was suspected. We did a sequencing analysis for exons 1, 3, and 4 of the CPT II gene and found that the patient was homozygote for Ser 113 Leu mutation in exon 3 of the CPT II gene. The patient recovery was complete except for the cardiomiopathy with mildly impaired systolic function. Conclusion. Whenever a patient suffers recurrent episodes of myalgia, followed by myoglobinuria due to rhabdomyolysis, we should always consider the possibility of this rare condition. The definitive diagnose of this condition is achieved by genetic testing. 1. Introduction Carnitine palmitoyltransferase (CPT) deficiencies are genetic disorders of mitochondrial fatty acid oxidation. Long-chain fatty acids are required for fueling the skeletal muscles and are only able to cross mitochondrial membrane after esterification with carnitine in a reaction with the enzyme CPT I. Inside the mitochondria, the fatty acid is reactivated to acyl-CoA from acylcarnitine and CoA with the help of CPT II in order to enter the β-oxidation cycle [1–3]. The CPT II deficiency presents in three different forms: lethal neonatal form; severe infantile hepatocardiomuscular form, and adult-myopathic form [1–8]. The adult-myopathic form is the most prevalent type of the disease with about 300 cases reported. The first description was made in 1973 by the brothers Di Mauro. The first symptoms most often occur between 6 and 20 years of age but the age of onset may be over 50 years and as early as 8 months of life [9, 10]. The symptomatology usually consists of recurrent attacks of rhabdomyolysis presenting as myalgias, muscle stiffness and weakness, and myoglobinuria. In rare situations, rhabdomyolysis may result in life-threatening complications such as
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