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Буклет 2013 року

Children with Lesch-Nyhan syndrome have a severe form of hyperuri- cemia accompanied by the formation of tophi, urate calculi in the urinary tracts, as well as serious neuro-psychiatric disorders. The cause of this disease is the reduced activity of the following enzyme:
  • Dihydrofolate reductase 11%
  • Hypoxanthine-guanine phosphori-bosyltransferase 51%
  • Karbamoyl phosphate synthetase 9%
  • Thymidylate synthase 2%
  • Xanthine oxidase 28%


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Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).

mhmdjaheen, 5 days ago , 05:58:21