Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy

Yasushi Ishida; Asako Ishimaru; Hisamichi Tauchi; Akiko Yamaguchi; Masayoshi Yokoyama; Kazuhiro Hiroi; Nobuaki Wakamatsu; Yasukazu Yamada

doi:10.1007/s00431-007-0607-8

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy

Eur J Pediatr. 2008 Aug;167(8):957-9. doi: 10.1007/s00431-007-0607-8. Epub 2007 Sep 21.

Authors

Yasushi Ishida¹, Asako Ishimaru, Hisamichi Tauchi, Akiko Yamaguchi, Masayoshi Yokoyama, Kazuhiro Hiroi, Nobuaki Wakamatsu, Yasukazu Yamada

Affiliation

¹ Department of Pediatrics, Ehime University Graduate School of Medicine, Touon-City, Ehime, 791-0295, Japan. [email protected]

PMID: 17891542
DOI: 10.1007/s00431-007-0607-8

Abstract

We describe the case of a 1-year-old boy with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. At his first visit to the hospital, he was diagnosed with hyperuricemia and irreversible renal failure. The misssense mutation Asp185Gly (554A>G) was identified in exon 8 of his HPRT gene, and this mutation was inherited from the mother.

Publication types

Case Reports

MeSH terms

Allopurinol / therapeutic use
Antimetabolites / therapeutic use
Creatinine / pharmacokinetics
Electrophoresis, Agar Gel
Humans
Hypoxanthine Phosphoribosyltransferase / genetics*
Infant
Lesch-Nyhan Syndrome / genetics*
Male
Metabolic Clearance Rate
Mutation, Missense*
Polymorphism, Restriction Fragment Length
Renal Insufficiency / genetics*
Uric Acid / pharmacokinetics

Substances

Antimetabolites
Uric Acid
Allopurinol
Creatinine
Hypoxanthine Phosphoribosyltransferase