Lesch-Nyhan syndrome
Lesch-Nyhan syndrome is caused by hyperuricemia (high serum levels of uric acid) due to a defective gene called the hypoxanthine guanine phosphoribosyltransferase. Patients with this syndrome are prone to have uric acid kidney stones and mental retardation. It is inherited as an X-linked recessive condition. Selected Lesch-Nyhan syndrome links:
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