一名患有同型胱氨酸尿症的泰国男孩中胱硫醚β-合酶基因的新型突变。
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
作者信息
Sirachainan Nongnuch, Wattanasirichaigoon Duangrurdee, Suwannarat Pim, Sasanakul Werasak, Chuansumrit Ampaiwan
机构信息
Department of Pediatrics, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
出版信息
J Pediatr Hematol Oncol. 2009 Oct;31(10):768-70. doi: 10.1097/MPH.0b013e3181a32bb8.
PMID:20051935
Abstract
The authors reported a 14-year-old boy who presented with multiple organs thrombosis and subluxation of lens. His diagnosis of homocystinuria was delayed owing to the unrecognition of the disease resulting in significant morbidity. The mutation analysis showed one novel mutation that can explain the high level of plasma homocysteine.
摘要
作者报告了一名14岁男孩，其出现多器官血栓形成和晶状体半脱位。由于对该病认识不足，他的同型胱氨酸尿症诊断被延误，导致了严重的发病率。突变分析显示了一种新的突变，该突变可以解释血浆同型半胱氨酸水平升高的原因。
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