Question

A patient comes in with a build up of uric acid in his body due to HPRT deficiency. The doctor learns that his mother was a carrier of this neurological disorder. What is this disorder called? a) Lesch-Nyhan Syndrome (LNS)

b) Parkinson's Disease
c) Multiple Sclerosis
d) Huntington's Disease

Answer 1

Lesch-Nyhan Syndrome (LNS) is a genetic disorder caused by a deficiency of the enzyme HGPRT. It leads to the buildup of uric acid in the body.

Step-by-step explanation:

The disorder described in the question is called Lesch-Nyhan Syndrome (LNS). It is a genetic disorder caused by a deficiency of the enzyme Hypoxanthine Guanine Phospho Ribosyl Transferase (HGPRT). In individuals with this syndrome, guanine, xanthine, and hypoxanthine are not salvaged and are degraded to uric acid, resulting in its buildup in the body. This disorder is especially seen in male children, while female children are carriers of the gene.