X-linked recessive disorder with mental retardation and self mutilation is seen in –
**Core Concept**
X-linked recessive disorders are caused by mutations in genes located on the X chromosome. These disorders are more common in males, who have only one X chromosome, and are often characterized by severe physical and developmental disabilities. The specific disorder in question is associated with mental retardation and self-mutilation.
**Why the Correct Answer is Right**
The correct answer is a disorder known as Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is responsible for the conversion of hypoxanthine and guanine to their respective monophosphate forms, which are then used in the synthesis of purine nucleotides. The deficiency of HGPRT leads to an accumulation of uric acid and its metabolites, resulting in the characteristic symptoms of Lesch-Nyhan syndrome, including self-mutilation, spastic cerebral palsy, and intellectual disability.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not match the description of Lesch-Nyhan syndrome. Other X-linked recessive disorders, such as hemophilia A, do not present with mental retardation and self-mutilation.
**Option B:** This option is incorrect because it is a different X-linked recessive disorder that presents with a different set of symptoms, including deafness and intellectual disability, but not self-mutilation.
**Option C:** This option is incorrect because it is a different type of genetic disorder that is not X-linked recessive, but rather an autosomal dominant disorder that presents with different symptoms.
**Clinical Pearl / High-Yield Fact**
Lesch-Nyhan syndrome is a classic example of a genetic disorder that highlights the importance of proper diagnosis and management in the prevention of self-mutilation and other complications. Early recognition and treatment with enzyme replacement therapy can significantly improve the quality of life for affected individuals.
**Correct Answer:** C. Fragile X syndrome