What genetic condition is associated with gout, mental retardation, and self-mutilating behavior in a young boy?

The genetic condition associated with gout, mental retardation, and self-mutilating behavior in a young boy is Lesch-Nyhan syndrome. This X-linked recessive disorder results from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is crucial for the purine salvage pathway, and when it is deficient, it leads to an accumulation of uric acid in the body, resulting in gout.

Children with Lesch-Nyhan syndrome also exhibit significant cognitive impairments, often categorized as mental retardation. Additionally, one of the hallmark behavioral manifestations is self-mutilating behavior, which includes actions like biting of the lips and fingers. The triad of hyperuricemia (leading to gout), cognitive deficits, and self-injurious behaviors makes this syndrome distinctly recognizable, particularly in males.

Other conditions listed do not exhibit this particular combination of symptoms. For instance, Fragile X syndrome primarily affects cognitive ability with a specific genetic characteristic but does not result in gout or self-mutilation. Duchenne muscular dystrophy is characterized by muscle degeneration and weakness rather than the metabolic and behavioral manifestations seen in Lesch-Nyhan syndrome. Turner syndrome involves the absence of