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

doi:10.1007/BF02467362

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

The Shraga Segal Department of Microbiology, Immunology and Genetics

Research output: Contribution to journal › Article › peer-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 V_max 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
Pages (from-to)	595-597
Number of pages	3
Journal	European Journal of Pediatrics
Volume	146
Issue number	6
DOIs	https://doi.org/10.1007/BF02467362
State	Published - 1 Nov 1987

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1007/BF02467362

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

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.",

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AU - Kerem, E.

AU - Branski, D.

AU - Gross-Kieselstein, E.

AU - Hurvitz, H.

AU - Abrahamov, A.

AU - Pollack, Y.

PY - 1987/11/1

Y1 - 1987/11/1

N2 - 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.

AB - 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.

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ER -

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

Abstract

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