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.
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).
Zamora
Alfonso
A
Department of Pediatrics, Hospital Infantil de México Federico Gómez, México City, México. chamu14@hotmail.com
Escárcega
Ricardo O
RO
Vazquez
Rodrigo
R
Zamora
Antonio
A
O'Neill
J Patrick
JP
D058186:Acute Kidney Injury / Q000150:complications*; D005091:Exons / Q000235:genetics; D006073:Gout / Q000150:complications*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D017384:Sequence Deletion
D007041:Hypoxanthine Phosphoribosyltransferase