Elpeleg O N, Joseph A, Branski D, Christensen E, Holme E, Demaugre F, Saudubray J M, Gutman A
Department of Pediatrics, Shaare-Zedek Medical Center, Jerusalem, Israel.
J Pediatr. 1993 Jun;122(6):917-9. doi: 10.1016/s0022-3476(09)90019-1.
A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
一名3岁男孩反复出现嗜睡、脑病和肝肿大，伴有低血糖、肝转氨酶和肌酸激酶值升高以及非酮性二羧酸尿症；血清肉碱水平中度降低。淋巴细胞和成纤维细胞中的肉碱棕榈酰转移酶II活性降低。左旋肉碱治疗和长链甘油三酯含量低的饮食并不能预防复发。
