Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme:
Correct Answer: Hypoxanthine-guanine phosphoribosyl transferase
Description: Ans. A. Hypoxanthine-guanine phosphoribosyl transferasePurine biosynthesis takes place by de novo and salvage pathway. Erythrocytes, Neutrophils and the brain cells lack the enzyme "PRPP-amido transferase" so salvage pathway is operative there. It is one step synthesis.HGPRT ase (Hypoxanthine guanine phosphoribosyl transferase)Deficiency of HGPRT (Hypoxanthine-guanine phosphoribosyl transferase) leads to an inherited X-linked disorder, Lesch- Nyhan syndrome, which affects only males. In this salvage pathway is not operative, purines can't be converted into nucleotides and degraded to uric acid. The symptoms area. Hyperuricemiab. Goutc. Urinary tract stonesd. Neurological symptoms of mental retardatione. Self-mutilation (painful, destructive biting of fingers and lips).
Category:
Biochemistry
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