Fischer P J, Hecker W
Kinderklinik des Olgahospitals, Pädiatrisches Zentrum, Stuttgart.
Klin Padiatr. 1990 Mar-Apr;202(2):73-5. doi: 10.1055/s-2007-1025491.
A seven months old infant presented with recurrent episodes of acidosis and hypoglycemia triggered by fasting and febrile infections. The diagnosis of fructose-1,6-diphosphatase deficiency was made by demonstrating the enzyme deficiency in a liver biopsy specimen. Fructose-1,6-diphosphatase is a key enzyme of gluconeogenesis. Fructose-1,6-diphosphatase deficiency results in hypoglycemia and lactic acidosis during episodes of fasting. Diagnosis is made preferably by liver biopsy. Treatment includes elimination of fructose and sucrose from the diet and avoidance of fasting. Acute attacks are treated by intravenous infusion of glucose and bicarbonate if necessary.
一名七个月大的婴儿出现由禁食和发热感染引发的反复酸中毒和低血糖发作。通过在肝脏活检标本中证实酶缺乏，诊断为果糖-1,6-二磷酸酶缺乏症。果糖-1,6-二磷酸酶是糖异生的关键酶。果糖-1,6-二磷酸酶缺乏会在禁食期间导致低血糖和乳酸酸中毒。诊断最好通过肝脏活检进行。治疗包括从饮食中去除果糖和蔗糖并避免禁食。如有必要，急性发作通过静脉输注葡萄糖和碳酸氢盐进行治疗。
