The disease is caused by a partial deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1 encoded by the gene HPRT, which results in uric acid accumulation. The clinical picture is characterized by gout and uric acid kidney stones.
|Uric acid nephropathy|
Zoref-Shani E et al. (2000) Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.[^]
Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.[^]
Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid.[^]
McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.[^]
Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.[^]
Andrés A et al. (1987) Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.[^]