Lease Kevin A, Wang David
Internal Medicine, University of Missouri School of Medicine, Columbia, USA.
Cureus. 2024 Dec 24;16(12):e76332. doi: 10.7759/cureus.76332. eCollection 2024 Dec.
Carnitine palmitoyltransferase II (CPT2) deficiency is a rare genetic disorder that prevents the body from using long-chain fatty acids (LCFAs) for energy. We report a case of a 40-year-old male with a recent episode of rhabdomyolysis triggered by an illness. His liver function tests (LFTs) and creatine kinase (CK) levels were markedly elevated. His rhabdomyolysis improved in the hospital with supportive treatment. At follow-up appointments, it was found that he had labs consistent with CPT2 deficiency. Genetic testing confirmed a homozygous mutation in the CPT2 gene. This report highlights the importance of considering CPT2 deficiency as a cause of recurrent rhabdomyolysis, especially when triggered by non-traumatic causes.
肉碱棕榈酰转移酶II（CPT2）缺乏症是一种罕见的遗传性疾病，它会阻止身体利用长链脂肪酸（LCFA）来获取能量。我们报告一例40岁男性病例，其近期因疾病引发了横纹肌溶解症。他的肝功能检查（LFT）和肌酸激酶（CK）水平显著升高。在医院接受支持性治疗后，他的横纹肌溶解症有所改善。在后续随访中，发现他的实验室检查结果与CPT2缺乏症相符。基因检测证实CPT2基因存在纯合突变。本报告强调了将CPT2缺乏症视为复发性横纹肌溶解症病因的重要性，尤其是在由非创伤性原因引发时。
