Tein I, Christodoulou J, Donner E, McInnes R R
Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.
J Pediatr. 1994 Jun;124(6):938-40. doi: 10.1016/s0022-3476(05)83187-7.
An 18-year-old female patient had a history of recurrent pancreatitis after prolonged periods of exercise coupled with a high-fat diet at the ages of 12 and 15 years. After the onset of recurrent myoglobinuria when she was 16 years old, deficiency of carnitine palmitoyltransferase type II (32% residual activity) was diagnosed on the basis of cultured skin fibroblasts. We conclude that deficiency of carnitine palmitoyltransferase type II may be a cause of pancreatitis and should be considered in the differential diagnosis, even in the absence of overt myoglobinuria.
一名18岁女性患者在12岁和15岁时，有在长时间运动并伴有高脂饮食后反复发生胰腺炎的病史。16岁时出现反复肌红蛋白尿发作，基于培养的皮肤成纤维细胞诊断为肉碱棕榈酰转移酶II型缺乏（残余活性32%）。我们得出结论，肉碱棕榈酰转移酶II型缺乏可能是胰腺炎的一个病因，即使在没有明显肌红蛋白尿的情况下，在鉴别诊断中也应予以考虑。
