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Unless high blood levels of uric acid are determined in a clinical laboratory, hyperuricemia may not cause noticeable symptoms in most people. [5] Development of gout – which is a painful, short-term disorder – is the most common consequence of hyperuricemia, which causes deposition of uric acid crystals usually in joints of the extremities, but may also induce formation of kidney stones ...
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Purine nucleoside phosphorylase, PNP, PNPase or inosine phosphorylase (EC 2.4.2.1) is an enzyme that in humans is encoded by the NP gene. It catalyzes the chemical reaction purine nucleoside + phosphate ⇌ {\displaystyle \rightleftharpoons ...
Purine is both a very weak acid (pK a 8.93) and an even weaker base (pK a 2.39). [6] If dissolved in pure water, the pH is halfway between these two pKa values. Purine is aromatic, having four tautomers each with a hydrogen bonded to a different one of the four nitrogen atoms. These are identified as 1-H, 3-H, 7-H, and 9-H (see image of ...
Murexide test is a color test for uric acid and some other purines. The (solid) sample is first treated with small volume of a concentrated acid such as hydrochloric acid, nitric acid, which is slowly evaporated away; subsequent addition of ammonia (NH 3) gives a purple color if uric acid was present, due to formation of murexide, or a yellow color that turns to red on heating if xanthine or ...
The disorder is caused by a mutation of the purine nucleoside phosphorylase (PNP) gene, located at chromosome 14q13.1. [3] [4] This mutation was first identified by Eloise Giblett, a professor at the University of Washington, in 1975. [5] PNP is a key enzyme in the purine catabolic [6] pathway, and is required for purine degradation.
Mutations in the gene lead to hyperuricemia.At least 67 disease-causing mutations in this gene have been discovered: [5] 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.
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
Purine metabolism can have imbalances that can arise from harmful nucleotide triphosphates incorporating into DNA and RNA which further lead to genetic disturbances and mutations, and as a result, give rise to several types of diseases. Some of the diseases are: Severe immunodeficiency by loss of adenosine deaminase.