Argininosuccinic aciduria


What are the first steps after a newborn screening test is positive for argininosuccinic aciduria?

If an infant has a positive newborn screening test for argininosuccinic aciduria, then further testing will be done to confirm that the child has the disorder. If the diagnosis is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Treatment with special diet that is low in protein should be started immediately. Other initial steps will depend on how the disorder is affecting a person and when the disorder was diagnosed if it was not diagnosed through newborn screening.

Families should see a genetic counselor to help understand the genetic aspects of this disorder. Families may consider contacting a support group. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

The National Urea Cycle Disorders Foundation provides information, support, guidance, referrals and networking among other programs for individuals and families affected by urea cycle disorders like argininosuccinic aciduria.

Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. GeneReviews website. Accessed July 1, 2017.

Lee B. Urea Cycle Disorders: Management. UpToDate, Inc. website.

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