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Case Reports
. 2012 Nov;79(11):1520-2.
doi: 10.1007/s12098-011-0657-9. Epub 2011 Dec 20.

Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene

Suvasini Sharma  1 , Rosa Torres Jiménez, Satinder Aneja, Marta G Garcia, Gulshan R Sethi
Affiliations
Case Reports

Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene

Suvasini Sharma et al. Indian J Pediatr. 2012 Nov.

Abstract

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.

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References

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