Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. 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.
Neurological symptoms of Lesch Nyhan Syndrome include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.read more
The prognosis for individuals with Lesch Nyhan Syndrome is poor. Death is usually due to renal failure in the first or second decade of life.read more