一名患有磷酸核糖焦磷酸合成酶缺乏症婴儿的脑电图研究。

Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.

作者信息

Inuma K, Wada Y, Onuma A, Tanabu M

出版信息

Tohoku J Exp Med. 1975 May;116(1):53-5. doi: 10.1620/tjem.116.53.

DOI:10.1620/tjem.116.53

Abstract

In a hypouricemic and mentally retarded infant due to a defect of 5-phosphoribosylpyrophosphate synthetase, electroencephalograms were recorded at the age of 4, 7, 10 and 11 months. Hypsarrhythmia was first observed at the age of 10 months, and markedly improved after ACTH therapy with concomitant increase in the enzyme activity of erythrocytes.

摘要

在一名因5-磷酸核糖焦磷酸合成酶缺陷导致低尿酸血症和智力发育迟缓的婴儿中，分别在其4、7、10和11个月大时记录了脑电图。高幅失律首次在10个月大时被观察到，在促肾上腺皮质激素治疗后显著改善，同时红细胞酶活性增加。