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Exam questionKROK 1Medicine ยท 2013

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:

Answer options

  1. Karbamoyl phosphate synthetase
  2. Thymidylate synthase
  3. Hypoxanthine-guanine phosphori-bosyltransferase
  4. Dihydrofolate reductase
  5. Xanthine oxidase
Correct answer

Hypoxanthine-guanine phosphori-bosyltransferase

Explanation

Hypoxanthine-Guanine Phosphoribosyl Transferase.Lesch-Nyhan syndrome is caused by a deficiency of the enzyme HGPRT located on the X chromosome.

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