Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey.

Wide spectrums of symptoms besides muscle weakness, different triggering factors and varied muscles involvement are associated with CPT II deficiency. However, systematic clinical characterization of CPT II deficiency is not known. A Questionnaire-based retrospective study on 13 biochemically and genetically confirmed CPT II deficient patients was performed to analyze these aspects. Attacks of myalgia (13/13 patients), weakness (13/13) and rhabdomyolysis (10/13 patients) were most frequently reported. The number of attacks ranged from 1 to 85/year. Common triggers were exercise (13/13), fasting (13/13), cold (12/13) and infections (12/13). Exercise lasting from 15 to 60 min was sufficient for attacks in 9/13 patients, 1-4 h in 3/13 patients and more than 4 h in 1/13 patient. 2/13 patients required dialysis. Limb muscles were affected slightly more often than other muscles. Mean intensity of pain in visual analogue scale (VAS) during regular attack was 4.77 (±1.36). Frequency and severity of attacks did not increase during the course of disease in 10/13 patients. 7/13 patients quit sports after the symptoms emerged. 3/13 patients changed their profession permanently. Increased number of attacks were positively correlated with higher BMI (P = 0.05). Body rest, carbohydrate-rich nutrients and fluid-supplement mitigated the pain. After the first attack [Mean: 9.7 (±4.46) years], diagnosis took an average of 26.7 (± 13.06) years. In myopathic CPT II deficiency, frequencies of attacks are highly variable. Generally, the myopathic form is a mild form. However, severe patients requiring dialysis due to kidney failure could be present. Individuals with higher BMI are at risk of developing more frequent attacks.

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