Hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyzes the salvage synthesis of IMP and guanosine monophosphate (GMP) from the purine bases hypoxanthine and guanine, respectively, utilizing PRPP as a co-substrate.

What is HGPRT deficiency?

The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems.

What are the symptoms of Lesch-Nyhan syndrome?

Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability.

What enzyme is deficiency in Lesch-Nyhan syndrome?

HPRT1 gene mutations that cause Lesch-Nyhan syndrome result in a severe shortage (deficiency) or complete absence of hypoxanthine phosphoribosyltransferase 1. When this enzyme is lacking, purines are broken down but not recycled, producing abnormally high levels of uric acid.

Which of the following cell is made deficiency of HGPRT enzyme?

Answer: Lesch-Nyhan syndrome is due to deficiency of HGPRT caused by HPRT1 mutation.

What is the product of this reaction if it is catalyzed by hypoxanthine guanine phosphoribosyltransferase?

HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate.

Is hypoxanthine a purine?

Hypoxanthine (6-hydroxypurine) is a naturally occurring purine derivative and a deaminated form of adenine, itself a breakdown product of adenosine monophosphate (AMP).

Are HGPRT enzymes deficient?

Lesch–Nyhan syndrome is due to deficiency of HGPRT caused by HPRT1 mutation. Some mutations have been linked to gout, the risk of which is increased in hypoxanthine-guanine phosphoribosyltransferase deficiency.

What is the final product of purine catabolism?

Uric acid is the end product of purine metabolism in humans. Two-thirds of uric acid in the human body is normally excreted through the kidney, whereas one-third undergoes uricolysis (decomposition of uric acid) in the gut.

How long is the average lifespan of a person with Lesch-Nyhan syndrome?

With treatment, the average life expectancy is early- to mid-20s. There may be an increased risk of sudden death due to respiratory causes. However, many people live longer with good medical and psychological care. With treatment, the average life expectancy is early- to mid-20s.

What is the function of HGPRT?

HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. This reaction transfers the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine.

Which of the following cells is made deficiency of HGPRT enzyme?