HRPT-related hyperuricemia

info · Genetic

A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.

Signs and symptoms

Renal insufficiency
Kidney stone
Podagra
Hyperuricosuria
Hyperuricemia

Also known as: HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency