[与一例新的果糖-1,6-二磷酸酶缺乏症相关的低血糖和高乳酸血症。白细胞中酶活性的测定]
[Hypoglycemia and hyperlactacidemia in relation with a new case of fructose-1,6-diphosphatase deficiency. Determination of enzymatic activity in leukocytes].
作者信息
Rayet I, Teyssier G, Berlioux F, Maire I, Freycon M T
出版信息
Pediatrie. 1986 Jan-Feb;41(1):49-55.
PMID:3014428
Abstract
A 11.5 month-old girl with recurrent episodes of hypoglycemia and lactic acidosis was identified as having fructose-1,6-diphosphatase deficiency. The diagnosis may be realised with a simple way by an oral fructose tolerance test and the activity dosage of this enzyme in white blood cells. The fructose and sucrose-free diet and avoidance of prolonged fasting resulted in a decrease of hepatomegaly and normal values of lactate between the episodes.
摘要
一名11.5个月大的女童反复出现低血糖和乳酸性酸中毒，被诊断为果糖-1,6-二磷酸酶缺乏症。通过口服果糖耐量试验和检测白细胞中该酶的活性，可简便地实现诊断。无果糖和蔗糖饮食以及避免长时间禁食，使肝肿大减轻，发作期间乳酸值恢复正常。
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