Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene

被引：2
|
作者：
Sharma, Suvasini [1 ,2 ]
Torres Jimenez, Rosa [5 ]
Aneja, Satinder [1 ,2 ]
Garcia, Marta G. [5 ]
Sethi, Gulshan R. [3 ,4 ]
机构：
[1] Lady Hardinge Med Coll & Hosp, Dept Pediat, New Delhi, India
[2] Associated Kalawati Saran Childrens Hosp, New Delhi, India
[3] Maulana Azad Med Coll, Dept Pediat, New Delhi, India
[4] Associated Lok Nayak Hosp, New Delhi, India
[5] La Paz Univ Hosp, Dept Clin Biochem, IdiPaz, Madrid, Spain
来源：
INDIAN JOURNAL OF PEDIATRICS | 2012年 / 79卷 / 11期
关键词：
Self-mutilation; Hyperuricemia; Purine metabolism; SPANISH FAMILIES; DEFICIENCY; SPECTRUM;
D O I：
10.1007/s12098-011-0657-9
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene.
引用
收藏
页码：1520 / 1522
页数：3
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