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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.
Unless high blood levels of uric acid are determined in a clinical laboratory, hyperuricemia may not cause noticeable symptoms in most people. [4] 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 ...
A tophus (Latin: "stone", pl.: tophi) is a deposit of monosodium urate crystals, in people with longstanding high levels of uric acid (urate) in the blood, a condition known as hyperuricemia. Tophi are pathognomonic for the disease gout. Most people with tophi have had previous attacks of acute arthritis, eventually leading to the formation of ...
Underexcretion of uric acid by the kidney is the primary cause of hyperuricemia in about 90% of cases, while overproduction is the cause in less than 10%. [5] About 10% of people with hyperuricemia develop gout at some point in their lifetimes. [ 19 ]
Gout is a form of arthritis caused by excessive uric acid production, resulting in urate crystals depositing in joints, particularly in extremities, such as toes. [48] [49] Urate levels in the blood may increase from consuming purine-rich foods or from body factors affecting urate clearance from the blood, a topic remaining under study. [48]
Uric acid is a heterocyclic compound of carbon, nitrogen, oxygen, and hydrogen with the formula C 5 H 4 N 4 O 3. It forms ions and salts known as urates and acid urates, such as ammonium acid urate. Uric acid is a product of the metabolic breakdown of purine nucleotides, and it is a normal component of urine. [1]
The build up of uric acid causing high amount of uric acid in blood, is a condition called hyperuricemia. Long-standing hyperuricemia can cause deposition of monosodium urate crystals in or around joints, resulting in an arthritic condition called gout .
Up to 85% of people with major traumatic injuries will experience some degree of rhabdomyolysis. [4] Of those with rhabdomyolysis, 10–50% develop acute kidney injury. [ 4 ] [ 10 ] The risk is higher in people with a history of illicit drug use, alcohol misuse or trauma when compared to muscle diseases, and it is particularly high if multiple ...