This disease is inherited in an X linked recessive pattern.
HGPRT is a transferase enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP). This enzyme plays a key role in the purine salvage pathway.
HGPRT is a transferase enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) in the purine salvage pathway.
HGPRT is a transferase enzyme that catalyzes the conversion guanine to guanosine monophosphate (GMP) in the purine salvage pathway.
Because the purine salvage pathway is defective, cell breakdown products cannot be reused and are instead degraded into uric acid.
Gout is caused by excess uric acid and is commonly seen in Lesch-Nyhan syndrome.
Individuals with Lesch-Nyhan syndrome display significantly impaired cognitive functioning with deficits in two or more adaptive behaviors.
A particularly striking feature of Lesch-Nyhan syndrome is self-mutilation, commonly manifested by lip and finger biting.
Choreoatheotosis presents as involuntary movements with features of chorea, which are irregular dance like movements, and athetosis, characterized by a twisting and writhing motion.
Phosphoribosyl pyrophosphate (PRPP) accumulates due to defective HGPRT and stimulates the de novo purine synthesis pathway.
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