Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy

E. Kerem, D. Branski, E. Gross-Kieselstein, H. Hurvitz, A. Abrahamov, Y. Pollack

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

A 6-month-old infant presented with failure to thrive, hyperuricaemia and renal insufficiency. The hyperuricaemia was due to uric acid over-production. The level of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was found to be normal. However, a two-fold increase in the Km of the enzyme to hypoxanthine as well as in the Vmax values was observed. It seems therefore, that in cases of uric acid over-production, screening tests of HGPRT activity may be insufficient and additional kinetic properties of the enzyme should be tested.

Original languageEnglish
Pages (from-to)595-597
Number of pages3
JournalEuropean Journal of Pediatrics
Volume146
Issue number6
DOIs
StatePublished - 1 Nov 1987

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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