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  2. Uremia - Wikipedia

    en.wikipedia.org/wiki/Uremia

    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.

  3. Ornithine translocase deficiency - Wikipedia

    en.wikipedia.org/wiki/Ornithine_translocase...

    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.

  4. Hyperammonemia - Wikipedia

    en.wikipedia.org/wiki/Hyperammonemia

    Glycine toxicity causes hyperammonemia, which manifests as CNS symptoms and nausea. Transient blindness can also occur. [12] Congenital hyperammonemia is usually due to genetic defects in one of the enzymes of the urea cycle, such as ornithine transcarbamylase deficiency, which leads to lower production of urea from ammonia. [citation needed]

  5. Urea cycle - Wikipedia

    en.wikipedia.org/wiki/Urea_cycle

    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.

  6. Blood urea nitrogen - Wikipedia

    en.wikipedia.org/wiki/Blood_urea_nitrogen

    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 ]

  7. Ornithine transcarbamylase deficiency - Wikipedia

    en.wikipedia.org/wiki/Ornithine_transcarbamylase...

    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.

  8. Citrullinemia - Wikipedia

    en.wikipedia.org/wiki/Citrullinemia

    Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. [1] Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea ...

  9. Citrullinemia type I - Wikipedia

    en.wikipedia.org/wiki/Citrullinemia_type_I

    As one of the urea cycle disorders, citrullinemia type I needs to be distinguished from the others: carbamoyl phosphate synthetase deficiency, argininosuccinic acid lyase deficiency, ornithine transcarbamylase deficiency, arginase deficiency, and N-Acetylglutamate synthase deficiency. Other diseases that may appear similar to CTLN1 include the ...