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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 ...
Ornithine translocase deficiency belongs to a class of metabolic disorders referred to as urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.
Uremia is the condition of having high levels of urea in the blood. Urea is one of the primary components of urine.It can be defined as an excess in the blood of amino acid and protein metabolism end products, such as urea and creatinine, which would normally be excreted in the urine.
Measurements of urea and creatinine (Cr) in the blood are used to assess renal function. For historical reasons, the lab test measuring urea is known as "blood urea nitrogen" (BUN) in the US. The BUN:Cr ratio is a useful measure in determining the type of azotemia and will be discussed in each section below. A normal BUN:Cr is equal to 15. [3]
Uric acid is a product of the metabolic breakdown of purine nucleotides, and it is a normal component of urine. [1] High blood concentrations of uric acid can lead to gout and are associated with other medical conditions, including diabetes and the formation of ammonium acid urate kidney stones .
The urea cycle converts highly toxic ammonia to urea for excretion. [1] This cycle was the first metabolic cycle to be discovered by Hans Krebs and Kurt Henseleit in 1932, [2] [3] [4] five years before the discovery of the TCA cycle. The urea cycle was described in more detail later on by Ratner and Cohen.
Blood urea nitrogen (BUN) is a medical test that measures the amount of urea nitrogen found in blood. The liver produces urea in the urea cycle as a waste product of the digestion of protein . Normal human adult blood should contain 7 to 18 mg/dL (0.388 to 1 mmol/L) of urea nitrogen. [ 1 ]
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.