Hopwood N J, Holzman I, Drash A L
Am J Dis Child. 1977 Apr;131(4):418-21. doi: 10.1001/archpedi.1977.02120170044009.
A girl aged 3 years and 11 months, with recurrent episodes of unexplained metabolic acidosis, hepatomegaly, and fasting hypoglycemia unresponsive to glucagon, showed profound falls in blood glucose levels in response to oral fructose and glycerol challenge. In vitro analysis of her hepatic glycolytic and gluconeogenic enzymes demonstrated absent fructose-1,6-diphosphatase activity. A therapeutic trial of orally given folic acid, 30 mg daily, did not improve her tolerance for fructose and glycerol. Over the next two years she showed improvement in tolerance to fasting, and to fructose and glycerol loading on dietary management.
一名3岁11个月大的女孩，反复出现不明原因的代谢性酸中毒、肝肿大以及对胰高血糖素无反应的空腹低血糖，口服果糖和甘油激发试验后血糖水平显著下降。对其肝脏糖酵解和糖异生酶的体外分析显示果糖-1,6-二磷酸酶活性缺失。每日口服30毫克叶酸的治疗试验未能改善她对果糖和甘油的耐受性。在接下来的两年里，通过饮食管理，她对禁食、果糖和甘油负荷的耐受性有所改善。
