What condition is characterized by a metabolic deficiency in males affecting their processing of purines?

What condition is characterized by a metabolic deficiency in males affecting their processing of purines?

• A. Lesch-Nyhan Syndrome
• B. Autism Spectrum Disorder
• C. Fragile X Syndrome
• D. Williams Syndrome

Answer: (A)

Lesch-Nyhan Syndrome is a genetic disorder that results from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which is crucial for the metabolism of purines. This deficiency leads to an imbalance in purine metabolism, causing an accumulation of uric acid and resulting in various symptoms including intellectual disability, self-injurious behavior, and severe motor dysfunction. The fact that it primarily affects males is due to its X-linked recessive inheritance pattern, meaning that the gene responsible for the disorder is located on the X chromosome. In contrast, Autism Spectrum Disorder, Fragile X Syndrome, and Williams Syndrome have different genetic or environmental underpinnings and are not specifically linked to a metabolic deficiency related to purines.

Lesch-Nyhan Syndrome is a genetic disorder that results from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which is crucial for the metabolism of purines. This deficiency leads to an imbalance in purine metabolism, causing an accumulation of uric acid and resulting in various symptoms including intellectual disability, self-injurious behavior, and severe motor dysfunction. The fact that it primarily affects males is due to its X-linked recessive inheritance pattern, meaning that the gene responsible for the disorder is located on the X chromosome. In contrast, Autism Spectrum Disorder, Fragile X Syndrome, and Williams Syndrome have different genetic or environmental underpinnings and are not specifically linked to a metabolic deficiency related to purines.