Purines, Pyrimidines and Nucleic Acid Metabolism
Lesch Nyhan syndrome is due to:
|A||Underactive HMP shunt|
|B||Defective orotic acid metabolism|
|D||PRPP synthetase deficiency|
a. Hypoxanthine guanine phosphoribosyl transferase deficiency leads to overproduction (hyperuricemia) due to excess PRPP accumulation in the cytosol.
b. Partial HGPRTase deficiency causes gout.
c. Total HGPRTase deficiency causes Lesch Nyhan syndrome.
d. Lesch Nyhan syndrome is a neuropsychiatric disorder characterised by self-mutilation.
e. Lesch Nyhan syndrome occurs in males because it is an X-linked recessive disorder.