Lesch-Nyhan Syndrome: Difference between revisions
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== Introduction == | == <big>Introduction</big> == | ||
Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). | Lesch-Nyhan syndrome (LNS) is a rare, inherited X-linked genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT),an enzyme of purine salvage pathway. The enzyme is responsible for recycling purines by converting guanine and hypoxanthine into guanosine monophosphate and inosine monophosphate, respectively. Lack of the enzyme causes an increase in guanine and hypoxanthine, which eventually gets converted into uric acid,<ref>Fu R, Sutcliffe D, Zhao H, Huang X, Schretlen DJ, Benkovic S, Jinnah HA. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. Mol Genet Metab. 2015,114(1):55-61.</ref> Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints and kidneys. LNS is inherited as an X-linked recessive genetic disorder that mostly affects males, with rare female exceptions. | ||
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Revision as of 22:51, 23 June 2023
Introduction[edit | edit source]
Lesch-Nyhan syndrome (LNS) is a rare, inherited X-linked genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT),an enzyme of purine salvage pathway. The enzyme is responsible for recycling purines by converting guanine and hypoxanthine into guanosine monophosphate and inosine monophosphate, respectively. Lack of the enzyme causes an increase in guanine and hypoxanthine, which eventually gets converted into uric acid,[1] Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints and kidneys. LNS is inherited as an X-linked recessive genetic disorder that mostly affects males, with rare female exceptions.
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- ↑ Fu R, Sutcliffe D, Zhao H, Huang X, Schretlen DJ, Benkovic S, Jinnah HA. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. Mol Genet Metab. 2015,114(1):55-61.
