Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene
Journal of the Korean Society of Pediatric Nephrology
;
: 86-90, 2003.
Article
Dans Coréen
| WPRIM
| ID: wpr-115882
ABSTRACT
An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was determined to have partial hypoxanthine-guanine phosphoribosyl transferase(HPRT) deficiency. The molecular genetic analysis revealed a missense mutation in the patient's HPRT gene. By sequencing the patient's cDNA, we identified an A-to-G transition at nucleotide 239, resulting in the replacement of Aspartate with Glycine at amino acid 80 in the HPRT. To our knowledge, this mutation has not previously been reported. Our patient is now being placed on allopurinol therapy, and has had no problem since. Partial HPRT deficiency has been known to cause recurrent acute renal failure without the phenotypic features of Lesch-Nyhan syndrome. Therefore, we think that early diagnosis and treatment are very crucial in preventing acute renal failure.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Acide urique
/
Allopurinol
/
Acide aspartique
/
ADN complémentaire
/
Mutation faux-sens
/
Hyperuricémie
/
Diagnostic précoce
/
Atteinte rénale aigüe
/
Glycine
/
Hypoxanthine phosphoribosyltransferase
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Pediatric Nephrology
Année:
2003
Type:
Article
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