A young male presented with X-linked recessive disorder with hyperuricemia and mild retardation develops
Correct Answer: Hypoxanthine phosphoribosyl transferase deficiency
Description: The X linked inherited disorder is Lesch Nyhan Syndrome. This is due to the deficiency of HGPase.The rate of Salvage Pathway of Purine is reduced.Ref: DM Vasudevan - Textbook of Biochemistry, 7th edition, page no: 568
Category:
Biochemistry
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