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 language | English |
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Pages (from-to) | 595-597 |
Number of pages | 3 |
Journal | European Journal of Pediatrics |
Volume | 146 |
Issue number | 6 |
DOIs | |
State | Published - 1 Nov 1987 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health