Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene.
- Author:
Ju Hee YANG
1
;
Min Hyuk PARK
;
Deok Soo KIM
;
Jae Won SHIM
;
Jung Yeon SHIM
;
Hye Lim JUNG
;
Moon Soo PARK
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. parkms@kbsmc.co.kr
- Publication Type:Case Report
- Keywords:
Urate crystaluria;
Partial HPRT deficiency;
HPRT gene mutation
- MeSH:
Acute Kidney Injury;
Allopurinol;
Aspartic Acid;
DNA, Complementary;
Early Diagnosis;
Glycine;
Humans;
Hyperuricemia;
Hypoxanthine Phosphoribosyltransferase*;
Infant;
Lesch-Nyhan Syndrome;
Male;
Molecular Biology;
Mutation, Missense*;
Uric Acid
- From:Journal of the Korean Society of Pediatric Nephrology
2003;7(1):86-90
- CountryRepublic of Korea
- Language:Korean
-
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.
