METABOLIC DISORDERS: LESCH-NYHAN SYNDROME
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Abstract
Lesch-Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction
of uric acid in the body. According to one estimate, the disorder occurs at a rate of approximately 1 in 400,000 births in
the world. It occurs almost exclusively in males due to being an X-linked recessive disorder. Excess uric acid production
and Neurological disorders with characteristic self-mutilating behaviors are major symptoms of LNS. LNS is a rare inborn
error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT), Mutations in the HPRT1 gene cause LNS. Treatment for LNS is
symptomatic, Gout treated with allopurinol; Kidney stones with lithotripsy; No standard treatment for the neurological
symptoms of LNS.
of uric acid in the body. According to one estimate, the disorder occurs at a rate of approximately 1 in 400,000 births in
the world. It occurs almost exclusively in males due to being an X-linked recessive disorder. Excess uric acid production
and Neurological disorders with characteristic self-mutilating behaviors are major symptoms of LNS. LNS is a rare inborn
error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT), Mutations in the HPRT1 gene cause LNS. Treatment for LNS is
symptomatic, Gout treated with allopurinol; Kidney stones with lithotripsy; No standard treatment for the neurological
symptoms of LNS.
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How to Cite
Rami, E., Bhatt, N., Wadhwani, N., & Sharma, A. (2020). METABOLIC DISORDERS: LESCH-NYHAN SYNDROME. Journal of Advanced Scientific Research, 11(Suppl 4), 31-37. https://doi.org/9
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Research Article
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