Zammarchi E, Filippi L, Novembre E, Donati M A
Department of Pediatrics, University of Florence, Italy.
Metabolism. 1996 Aug;45(8):957-60. doi: 10.1016/s0026-0495(96)90262-0.
A case of a child with recurrent episodes of severe hypoglycemia since the age of 6 months is reported. Biochemical evaluation extended to the first-degree relatives is consistent with a familial form of hypoglycemia due to a leucine-sensitive hyperinsulinism. In addition, this patient has a persistent elevation of serum ammonia levels of uncertain etiology that is more pronounced after meals. Urea cycle defects, organic acidurias, and beta-oxidation defects have been ruled out, as well as a possible excessive deamination of glucogenetic amino acids. This unexpected hyperammonemia, which was also detected in the mother, might be related to leucine hypersensitivity.
报告了一例自6个月大起就反复出现严重低血糖发作的儿童病例。对一级亲属进行的生化评估结果与因亮氨酸敏感型高胰岛素血症导致的家族性低血糖症相符。此外，该患者血清氨水平持续升高，病因不明，餐后更为明显。已排除尿素循环缺陷、有机酸尿症和β-氧化缺陷，以及生糖氨基酸可能过度脱氨基的情况。在母亲身上也检测到了这种意外的高氨血症，它可能与亮氨酸超敏反应有关。
