enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. 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.

  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. Sodium phenylbutyrate - Wikipedia

    en.wikipedia.org/wiki/Sodium_phenylbutyrate

    Sodium phenylbutyrate is taken orally or by nasogastric intubation as a tablet or powder, and tastes very salty and bitter. It treats urea cycle disorders, genetic diseases in which nitrogen waste builds up in the blood plasma as ammonia glutamine (a state called hyperammonemia) due to deficiences in the enzymes carbamoyl phosphate synthetase I, ornithine transcarbamylase, or argininosuccinic ...

  5. Carbamoyl phosphate synthetase I deficiency - Wikipedia

    en.wikipedia.org/wiki/Carbamoyl_phosphate_syn...

    Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called 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. In carbamoyl ...

  6. Urea cycle - Wikipedia

    en.wikipedia.org/wiki/Urea_cycle

    Urea cycle disorders may also be diagnosed in adults, and symptoms may include delirium episodes, lethargy, and symptoms similar to that of a stroke. [14] On top of these symptoms, if the urea cycle begins to malfunction in the liver, the patient may develop cirrhosis. [15] This can also lead to sarcopenia (the loss of muscle mass). [15]

  7. Ornithine transcarbamylase - Wikipedia

    en.wikipedia.org/wiki/Ornithine_transcarbamylase

    Mutations in the OTC gene can cause Ornithine Transcarbamylase deficiency. It is classified as a urea cycle disorder due to the fact that without proper OTC function ammonia starts to accumulate in the blood. Accumulation of ammonia in the blood is known as hyperammonemia. Although toxic in excess, ammonia is a nitrogen source for the body.

  8. NUCDF and Zevra Therapeutics Launch Check Ammonia Campaign to ...

    lite.aol.com/tech/story/0022/20241009/9253527.htm

    About the National Urea Cycle Disorders Foundation: NUCDF is a nonprofit organization dedicated to saving and improving the lives of children and adults affected by urea cycle disorders (UCDs) and raising awareness since 1988. Led exclusively by patients and families affected by UCDs, we are the driving force behind critical research to improve ...

  9. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...