Gout genetic cause

by Nathan Wei, MD, FACP, FACR

Nathan Wei is a nationally known board-certified rheumatologist and author of the Second Opinion Arthritis Treatment Kit. It's available exclusively at this website... not available in stores.

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The two main mechanisms of elevated serum uric acid (SUA)are uric acid overproduction (in 10% to 15% of patients with primary gout) and reduced kidney clearance of uric acid (in the rest of patients).

Two X-linked enzyme disorders cause increased rates of uric acid production:

They are hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency and phosphoribosylpyrophosphate (PRPP) synthetase overactivity. These disorders may present with neurologic signs in infancy or early childhood.

HGPRT deficiency produces Lesch-Nyhan syndrome, which is characterized by sensorineural deafness and self-mutilation.

PRPP synthetase overactivity results in impaired neurologic development.

Arguably, most people who suffer from gout have a metabolic tendency towards developing this condition. Many people with gout also have other medical conditions such as obesity, diabetes, hyperlipidemia, and hypertension. This confluence of disorders is termed the "metabolic syndrome."

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