J Korean Soc Pediatr Nephrol.  2003 Apr;7(1):86-90.

Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene

• Yang JH
• Park MH
• Kim DS
• Shim JW
• Shim JY
• Jung HL
• Park MS
• Yoo HW

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.

Keyword

Urate crystaluria; Partial HPRT deficiency; HPRT gene mutation

MeSH Terms

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
Allopurinol
Aspartic Acid
DNA, Complementary
Glycine
Hypoxanthine Phosphoribosyltransferase
Uric Acid