A young male presented with X-linked recessive disorder with hyperuricemia and mild retardation develops
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
Bronch chain amino acids metabolites deficiency
Hemogentisate oxidase defective enzymes
Hypoxanthine phosphoribosyl transferase deficiency
Phenylalanine hydroxylase deficiency
Metabolism of protein and amino acid