10.9k views
1 vote
_____ _____ ____ is a severe HGPRT deficiency that only affects males.

User Mbj
by
8.3k points

1 Answer

5 votes

Final answer:

Lesch-Nyhan syndrome is a severe HGPRT deficiency that only affects males.

Step-by-step explanation:

Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is involved in the salvage pathway of purine metabolism. The syndrome is characterized by neurological and behavioral abnormalities, including self-mutilation, intellectual disability, and spasticity.

It predominantly affects males because the gene for HGPRT is located on the X chromosome, and males have only one X chromosome (XY), while females have two (XX). As a result, if a male inherits a defective X chromosome carrying the Lesch-Nyhan mutation, he will manifest the disorder. Females, on the other hand, have a second X chromosome that may compensate for the defective gene, leading to a milder or asymptomatic presentation.

User Malek Zarkouna
by
8.2k points