Hicret YENİAY, Volkan YARAR, Gökhan KILINÇ, Yakup ÖZGÜNGÖR, Mensure ÇAKIRGÖZ
Türk Yoğun Bakım Dergisi - 2026;24(3):209-215
Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessive inherited metabolic disorder and represents the most common genetic cause of recurrent rhabdomyolysis in adulthood. The clinical course is characterized by episodic attacks precipitated by intense physical exertion, infections, psychological stress, or other physical and emotional stressors. Although avoidance or early recognition of triggering factors plays a critical role in prognosis, many patients continue to experience recurrent episodes of rhabdomyolysis. Management primarily focuses on elimination of precipitating factors and meticulous correction of fluid and electrolyte imbalances. Prompt recognition of CPT-II deficiency and rapid identification and management of rhabdomyolysis triggers are essential for preventing life-threatening complications. We report the clinical characteristics, therapeutic interventions, and outcome of a 31-year-old male patient with known CPT-II deficiency. The patient presented with dyspnea and generalized muscle weakness following an infectious episode. Laboratory evaluation revealed markedly elevated creatine kinase levels, and rhabdomyolysis secondary to CPT-II deficiency was diagnosed. The patient received supportive management, including intravenous fluid therapy for electrolyte stabilization, close monitoring in the intensive care unit, and treatment with triheptanoin. His symptoms improved gradually, and he was discharged in stable condition with recommendations emphasizing avoidance of known triggers and long-term disease management. This report aims to underscore the importance of early diagnosis and timely therapeutic intervention in the management of CPT-II deficiency.
