Dremsek P A, Sacher M, Stögmann W, Gitzelmann R, Bachmann C
Eur J Pediatr. 1985 Jul;144(2):203-4. doi: 10.1007/BF00451915.
A Turkish boy had suffered since the age of 10 months from recurrent attacks of severe metabolic acidosis and hypoglycaemia precipitated by moderate respiratory tract infections. A liver biopsy showed lack of fructose 1,6-diphosphatase and absence of phosphorylase. The patient died in shock following fructose ingestion. Upon fasting, acidosis with increased lactate and glycerol excretion was found. Findings indicate that, in this inherited disorder of gluconeogenesis, lactic acidosis combined with increased glycerol excretion upon fasting are of diagnostic importance.
一名土耳其男孩自10个月大起就因中度呼吸道感染引发反复严重代谢性酸中毒和低血糖发作。肝脏活检显示缺乏果糖1,6 -二磷酸酶且不存在磷酸化酶。该患者在摄入果糖后死于休克。禁食时发现酸中毒伴有乳酸和甘油排泄增加。研究结果表明，在这种糖异生的遗传性疾病中，禁食时乳酸酸中毒伴甘油排泄增加具有诊断意义。
