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Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene |
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| Authors: | Suvasini Sharma Rosa Torres Jiménez Satinder Aneja Marta G. Garcia Gulshan R. Sethi |
| Affiliation: | 1. Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children’s Hospital, New Delhi, India 2. Department of Clinical Biochemistry, IdiPaz, La Paz University Hospital, Madrid, Spain 3. Department of Pediatrics, Maulana Azad Medical College and associated Lok Nayak Hospital, New Delhi, India |
| 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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