Fahmi N, Ichraf K, Haifa S, Neji T, Ilhem Tby, Moncef F
{"title":"6-Pyruvoyl-tetrahydropterin synthase deficiency: The first Tunisian case","authors":"Fahmi N, Ichraf K, Haifa S, Neji T, Ilhem Tby, Moncef F","doi":"10.15761/CMR.1000148","DOIUrl":null,"url":null,"abstract":"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","PeriodicalId":93173,"journal":{"name":"EC clinical and medical case reports","volume":"1 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"EC clinical and medical case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15761/CMR.1000148","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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
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
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
