Article
Hereditary hyperuricemia and renal disease.
Seminars in nephrology - 1 Jan 2005
Cameron J Stewart, Simmonds H Anne
Abstract excerpt
Hyperuricemia and gout have long been known to run in families. As well as an apparently multifactorial genetic component to classic gout itself, 2 rather unusual sex-linked single-gene disorders of purine biosynthesis or recycling have been defined: deficiency of the enzyme hypoxanthine-guaninephosphoribosyl transferase (HPRT), and overactivity of PPriboseP synthase. Both result in overproduction of urate,...
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