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

If an infant has a positive newborn screening test for argininemia, 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 and restricts the amino acid arginine should be started immediately. When argininemia has been diagnosed and treated at birth, doctors believe that people can avoid developing symptoms of the disorder. Other initial steps will depend on how the disorder is affecting a person and whether the disorder was diagnosed after symptoms have already begun. If a diagnosis is made after symptoms have begun, then tests will be done to see how far along the disorder and will include neurological tests.

Families should see a genetic counselor to help understand the genetic aspects of this disorder. Families may consider contacting a support group. 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 argininemia.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2019-06-17


Wong D, Cederbaum S, Crombez EA. Arginase Deficiency. GeneReviews website.

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