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

页码：1520 / 1522

页数：3

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