A young male presented with X-linked recessive disorder with hyperuricemia and mild retardation develops: (A) Bronch chain amino acids metabolites deficiency, (B) Hemogentisate oxidase defective enzymes, (C) Hypoxanthine phosphoribosyl transferase deficiency, (D) Phenylalanine hydroxylase deficiency
Answer is C. 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