Final Answer:
Lesch-Nyhan syndrome, also known as juvenile gout, is caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Step-by-step explanation:
Lesch-Nyhan syndrome is a rare genetic disorder characterized by neurological and behavioral symptoms, including self-mutilating behaviors and severe intellectual disability. The underlying cause of this syndrome is a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which plays a crucial role in the salvage pathway of purine metabolism.
HGPRT is responsible for recycling purines, such as hypoxanthine and guanine, by converting them into their corresponding nucleotides. In individuals with Lesch-Nyhan syndrome, the lack of functional HGPRT results in the accumulation of excessive uric acid, leading to conditions like juvenile gout. The inability to properly metabolize purines and the subsequent buildup of uric acid contribute to the severe neurological and behavioral manifestations observed in individuals with this syndrome.
Understanding the enzymatic deficiency at the core of Lesch-Nyhan syndrome sheds light on the molecular mechanisms driving the disorder. The genetic mutation causing the HGPRT deficiency is located on the X chromosome, and the disorder primarily affects males. Diagnosis often involves genetic testing and identification of the characteristic symptoms, and while there is currently no cure for Lesch-Nyhan syndrome, management focuses on alleviating symptoms and improving the individual's quality of life.