[果糖-1,6-二磷酸酶缺乏症。基于一例病例报告的临床特征与诊断]
[Fructose-1,6-diphosphatase deficiency. Clinical aspects and diagnosis based on a case report].
作者信息
Lohrer R, Ibel H, Holzapfel P, Gerg S
出版信息
Monatsschr Kinderheilkd. 1987 Feb;135(2):112-3.
PMID:3033476
Abstract
In a 2-year-old boy the enzyme defect of fructose-1,6-diphosphatase deficiency could be demonstrated in liver tissue, jejunal mucosa and leukocytes. During the neonatal period the boy had suffered from transient metabolic acidosis and hypoglycemia. At the age of 2 years, during a febrile infection, he developed a hyperkinetic-hypotonic syndrome, which disappeared by fructose-free diet and avoidance of prolonged periods of fasting.
摘要
在一名2岁男孩的肝脏组织、空肠黏膜和白细胞中，证实存在1,6 -二磷酸果糖酶缺乏的酶缺陷。新生儿期，该男孩曾患短暂性代谢性酸中毒和低血糖。2岁时，在一次发热感染期间，他出现了运动亢进 - 低张力综合征，通过无果糖饮食和避免长时间禁食，该综合征消失。
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