6-丙酮酰四氢蝶呤合成酶缺乏症:突尼斯首例病例

EC clinical and medical case reports Pub Date : 2019-01-01 DOI:10.15761/CMR.1000148

Fahmi N, Ichraf K, Haifa S, Neji T, Ilhem Tby, Moncef F

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摘要

我们在突尼斯的mongi Ben Hmida的神经儿科发现了第一例6-丙酮酰四氢蝶呤合成酶缺乏症。遗传分析显示PTS基因为纯合突变;治疗开始于3岁。通讯:Fahmi Nasrallah, Rabta医院生物化学实验室，突尼斯突尼斯杰巴里1007号，电话:216716561912，电子邮件:fehmi56@yahoo.fr

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6-Pyruvoyl-tetrahydropterin synthase deficiency: The first Tunisian case

We detected a first case of 6-Pyruvoyl-tetrahydropterin synthase deficiency in Neuropediatric department mongi Ben Hmida of Tunisia. Genetic analyses of PTS gene demonstrated a homozygous mutation; treatment had been started at the age of 3 years. *Correspondence to: Fahmi Nasrallah, Laboratory of Biochemistry, Rabta Hospital, 1007 Jebbari, Tunis, Tunisia, Tel: 216 71 561912, E-mail: fehmi56@yahoo.fr

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EC clinical and medical case reports

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