Argininosuccinic aciduria

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How is argininosuccinic aciduria classified?

Argininosuccinic aciduria can be classified as a urea cycle disorder or an amino acid disorder. People with this disorder have problems with an enzyme called argininosuccinate lyase. This enzyme is missing, deficient, or damaged. The argininosuccinate lyase enzyme has a job. It is part of the urea cycle. This cycle is series of biochemical reactions that occur in the body to help to break down (metabolize) and then remove excess nitrogen from the body. Nitrogen is obtained from the diet and is a normal waste product of the metabolism of protein. Nitrogen is broken down into a compound called urea that is excreted from the body in the urine. Because they cannot completely convert nitrogen into urea, nitrogen (in the form of ammonia) build up in the body.

Argininosuccinic Aciduria. The National Organization for Rare Disorders website. Accessed July 1, 2017. https://rarediseases.org/rare-diseases/argininosuccinic-aciduria

Amino acid metabolism disorders. The March of Dimes website. Accessed July 10, 2017. http://www.marchofdimes.org/complications/amino-acid-metabolism-disorders.aspx

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