Hi. A syndrome of cerebral palsy, mental deficiency, self-mutilation and hyperuricemia may be suggestive of Lesch-Nyhan syndrome—a condition that lacks hypoxanthine-guanine phosphoribosyltransferase [HGPRT], the enzyme responsible for uric acid metabolism. In all males suspected with cerebral palsy, HGPRT deficiency must be ruled out, preferably by measuring the ratio of uric acid to creatinine in a random urine specimen. HGPRT deficiency is more likely suspected,
Lesch-Nyhan syndrome is a rare, inherited disorder carried by the mother and passed on to her son. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life. In addition,the lack of HPRT causes the body to poorly utilize vitamin B12-associated anemia (megaloblastic anemia).
Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. Neurological symptoms may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. To know more about LNS, consult your doctor.