A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.
Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.
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
Treatment for Lesch Nyhan Syndrome is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid.read more