HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene |
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| Authors: | Zamora Alfonso Escárcega Ricardo O Vazquez Rodrigo Zamora Antonio O'Neill J Patrick |
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| Affiliation: | Department of Pediatrics, Hospital Infantil de México Federico Gómez, México City, México. chamu14@hotmail.com |
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| Abstract: | We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT). |
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