Clinical feature: 

Definition: 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.

Diagnostics: 

Differential: Lesch-Nyhan syndrome results if the enzyme activity is completely deficient. This syndrome has additionally neurological features.  » » » 
   Uric acid nephropathy in patients with renal hypouricemia is the result of excessive renal excretion, and therefore may be distinguished by low plasma levels of uric acid.  » » » 
   Hyperuricemia also occurs in medullary cystic kidney diesease. The criteria that help to differentiate are the autosomal dominant pattern of inheritance and medullary cysts.  » » » 

Literature: 

Andrés A et al. (1987) Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.
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.
Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
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.