Krivickas Lisa S
Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital and Harvard Medical School, Boston, MA, USA.
Med Sci Sports Exerc. 2006 Mar;38(3):407-10. doi: 10.1249/01.mss.0000187413.41416.7e.
Hereditary metabolic disorders can cause rhabdomyolysis in athletes. Team physicians should be aware of the presentation, workup, and management of the most common of these disorders, carnitine palmitoyltransferase (CPT) II deficiency and muscle phosphorylase deficiency.
The case of a collegiate athlete with recurrent bouts of rhabdomyolysis is presented, and the diagnostic workup is discussed.
The patient described in this case has CPT II deficiency. The diagnosis and management of CPT II deficiency and muscle phosphorylase deficiency (McArdle's disease) are discussed.
Athletes with rhabdomyolysis, in the absence of an obvious cause such as drug toxicity, severe trauma, or excessive exercise, should be evaluated for the presence of a metabolic myopathy.
遗传性代谢紊乱可导致运动员横纹肌溶解。队医应了解这些疾病中最常见的肉碱棕榈酰转移酶（CPT）II缺乏症和肌肉磷酸化酶缺乏症的表现、检查及管理。
介绍一名患有复发性横纹肌溶解症的大学运动员病例，并讨论诊断检查。
该病例中的患者患有CPT II缺乏症。讨论了CPT II缺乏症和肌肉磷酸化酶缺乏症（麦克尔迪氏病）的诊断和管理。
对于横纹肌溶解的运动员，若不存在明显病因，如药物毒性、严重创伤或过度运动，应评估是否存在代谢性肌病。
