Final answer:
Lesch-Nyhan syndrome is caused by a deficiency in the HGPRT enzyme, leading to the accumulation of uric acid. It is an Xlinked recessive disorder with symptoms that include mental reta rdation and self-mutilation behaviors.
Step-by-step explanation:
The biochemical problem in Lesch-Nyhan syndrome is due to the deficiency of the enzyme Hypoxanthine Guanine Phospho Ribosyl Transferase (HGPRT). This enzyme is important for the salvage pathway of purine metabolism, which recovers purines (hypoxanthine and guanine) and converts them back into nucleotide monophosphates. Without HGPRT, these purines are degraded to uric acid, leading to hyperuricemia. Lesch-Nyhan syndrome is an X-linked recessive disorder and so typically presents in males, with female carriers less commonly expressing symptoms due to X-inactivation.
Some of the notable symptoms of Lesch-Nyhan syndrome include neurological dysfunctions, such as mental reta rdation, behavioral disturbances, and self-mutilating behaviors such as lip and finger biting. These symptoms are quite distinct and are therefore termed as 'cool' or interesting in a clinical sense due to their rarity and severity.