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Argininosuccinic aciduria

(AHR-juh-nin-noh-suhk-SIN-ik • A-suh-DUR-ee-uh)

General Condition Information

Other Names

  • Argininosuccinate acidemia
  • Argininosuccinate acidemia (argininosuccinase)
  • Argininosuccinate aciduria
  • Argininosuccinate lyase deficiency
  • Argininosuccinate lyase deficiency (argininosuccinic aciduria)
  • Argininosuccinic acidemia
  • Argininosuccinic aciduria deficiency
  • Arginosuccinate lyase deficiency

Condition Type

Birth Prevalence

  • It is estimated that between 15 and 55 babies are born with this condition each year in the United States.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Increased citrulline +/- increased argininosuccinic acid

What is Argininosuccinic aciduria

Argininosuccinic aciduria is an inherited (genetic) condition that prevents the body from removing ammonia properly. Ammonia is a waste product made when the body breaks down proteins. The body removes ammonia in a process called the urea cycle. Arginosuccinate lyase is an enzyme needed for the urea cycle.

In argininosuccinic aciduria, this enzyme is missing or is not made correctly. If your baby does not make enough working argininosuccinate lyase enzyme, the urea cycle does not work well and ammonia builds up.

High levels of ammonia are very toxic to the body, especially the nervous system and the liver. If untreated, this damage leads to the signs and symptoms of the condition. In severe cases, this condition can lead to coma if not treated early.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. 

Treatments may include the following:

  • Drugs that help remove ammonia from the body
  • Diet low in protein
  • Arginine supplements to help lower ammonia levels

Children who receive early and ongoing treatment for argininosuccinic aciduria can have healthy growth and development.

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