Haworth J C, Demaugre F, Booth F A, Dilling L A, Moroz S P, Seshia S S, Seargeant L E, Coates P M
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
J Pediatr. 1992 Oct;121(4):553-7. doi: 10.1016/s0022-3476(05)81143-6.
We describe hepatic carnitine palmitoyltransferase (CPT I) deficiency in three children (a brother and sister and their second cousin) from an extended inbred Hutterite kindred. The patients were first seen between 8 and 18 months of age with recurrent episodes of hypoketotic hypoglycemia accompanied by a decreased level of consciousness and hepatomegaly. One patient had two Reye syndrome-like episodes. Abnormal organic acids were rarely detected in urine. Serum total and free carnitine levels were elevated in all three patients. Fibroblast acyl-coenzyme A dehydrogenase activities were normal in all, but palmitic acid oxidation, performed in fibroblasts from one patient, was less than 10% of control values. Activity of CPT I in cultured skin fibroblasts from the three patients was 10% to 15% of control levels; CPT II activity was normal. Activity of CPT I and CPT II in muscle from one patient was normal. Atypical features in two of these patients were greatly elevated levels of liver enzymes and creatine kinase during acute episodes. The patients have recently been successfully treated with medium-chain triglycerides and avoidance of fasting. Early identification and treatment of this disorder may avert potentially fatal episodes of hypoglycemia.
我们描述了来自一个近亲通婚的哈特派家族的三名儿童（一名兄妹及其二表弟）的肝肉碱棕榈酰转移酶（CPT I）缺乏症。这些患者首次就诊时年龄在8至18个月之间，反复出现低酮性低血糖发作，伴有意识水平下降和肝肿大。一名患者有两次类似瑞氏综合征的发作。尿液中很少检测到异常有机酸。所有三名患者的血清总肉碱和游离肉碱水平均升高。所有患者的成纤维细胞酰基辅酶A脱氢酶活性均正常，但对其中一名患者的成纤维细胞进行的棕榈酸氧化低于对照值的10%。三名患者培养的皮肤成纤维细胞中CPT I的活性为对照水平的10%至15%；CPT II活性正常。其中一名患者肌肉中的CPT I和CPT II活性正常。这两名患者的非典型特征是急性发作期间肝酶和肌酸激酶水平大幅升高。这些患者最近已成功接受中链甘油三酯治疗并避免禁食。早期识别和治疗这种疾病可能避免潜在致命的低血糖发作。
