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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.
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]
Crystals that can be found in normal urine include uric acid, monosodium urate, triple phosphate (ammonium magnesium phosphate), calcium oxalate, and calcium carbonate. [124] Crystals can also appear as poorly defined aggregates of granular material, termed amorphous urates or amorphous phosphates (urates form in acid urine while phosphates ...
Hypouricemia or hypouricaemia is a level of uric acid in blood serum that is below normal. In humans, the normal range of this blood component has a lower threshold set variously in the range of 2 mg/dL to 4 mg/dL, while the upper threshold is 530 μmol/L (6 mg/dL) for women and 619 μmol/L (7 mg/dL) for men. [1]
Ascorbic acid (vitamin C) is known to interfere with the oxidation reaction of the blood and glucose pad on common urine test strips. Some urine test strips are protected against the interference with iodate, which eliminates ascorbic acid by oxidation. [25] Some test strips include a test for urinary ascorbate.
Hyperuricosuria is a medical term referring to the presence of excessive amounts of uric acid in the urine. For men this is at a rate greater than 800 mg/day, and for women, 750 mg/day. [ 1 ] Notable direct causes of hyperuricosuria are dissolution of uric acid crystals in the kidneys or urinary bladder , and hyperuricemia .
An exception is for acid–base and blood gases, which are generally given for arterial blood. [citation needed] Still, the blood values are approximately equal between the arterial and venous sides for most substances, with the exception of acid–base, blood gases and drugs (used in therapeutic drug monitoring (TDM) assays). [6]
Uricosuria refers to uric acid in the urine. Urine levels of uric acid can be described as: Hyperuricosuria, an abnormally high level of uric acid in the urine; Hypouricosuria, an abnormally low level of uric acid in the urine; Agents that increase uric acid in the urine are termed uricosurics