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
- Karbamoyl phosphate synthetase
- Thymidylate synthase
- Hypoxanthine-guanine phosphori-bosyltransferase
- Dihydrofolate reductase
- 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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