03-30-2011, 07:48 AM
46.EE
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme that in humans is encoded by the HPRT1 gene
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 to the purine. HGPRT plays a central role in the generation of purine nucleotides through the purine salvage pathway
Mutations in the gene lead to hyperuricemia:
Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley-Seegmiller syndrome.-----
-Partial hypoxanthine guanine phosphoribosyltransferase 1 deficiency (partial HGPRT deficiency) leading to hyperuricaemia, without CNS effects such as those seen in Lesch-Nyhan syndrome.
LNS is an X-linked recessive disease: Lesch-Nyhan syndrome is due to HPRT mutations resulting in extremely ineffective enzyme activity.
Some mutations have been linked to gout, the risk of which is increased in hyperuricemia
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme that in humans is encoded by the HPRT1 gene
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 to the purine. HGPRT plays a central role in the generation of purine nucleotides through the purine salvage pathway
Mutations in the gene lead to hyperuricemia:
Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. This condition has been named the Kelley-Seegmiller syndrome.-----
-Partial hypoxanthine guanine phosphoribosyltransferase 1 deficiency (partial HGPRT deficiency) leading to hyperuricaemia, without CNS effects such as those seen in Lesch-Nyhan syndrome.
LNS is an X-linked recessive disease: Lesch-Nyhan syndrome is due to HPRT mutations resulting in extremely ineffective enzyme activity.
Some mutations have been linked to gout, the risk of which is increased in hyperuricemia