Moses S W, Bashan N, Flasterstein B F, Rachmel A, Gutman A
Pediatric Research Laboratory, Soroka Medical Center, Beer Sheva, Israel.
Isr J Med Sci. 1991 Jan;27(1):1-4.
The clinical and biochemical data on nine patients belonging to six families with fructose-1,6-diphosphatase deficiency are reported. Two of the six families were Jewish, three were Moslem Arabs and one was of Druze origin. All patients had had neonatal hypoglycemia, lactic acidosis and an abnormal fructose or glycerol loading test. At a later age, instances of hypoglycemia occurred in patients both with and without preceding illness. Hypoglycemic attacks were associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures included a restriction in fructose intake and avoidance of prolonged fasting, particularly during febrile episodes.
报告了来自六个家庭的九名患有1,6 - 二磷酸果糖酶缺乏症患者的临床和生化数据。六个家庭中有两个是犹太家庭，三个是穆斯林阿拉伯家庭，一个是德鲁兹族家庭。所有患者均有新生儿低血糖、乳酸性酸中毒以及果糖或甘油负荷试验异常。在较晚年龄段，无论之前是否患病，患者均会出现低血糖情况。低血糖发作与严重高尿酸血症和代谢性酸中毒有关。治疗措施包括限制果糖摄入以及避免长时间禁食，尤其是在发热期间。
