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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results show an abnormal level of citrulline, your baby will need to have another test. Abnormal levels of citrulline can indicate Argininosuccinic Acidemia, Citrullinemia, or Pyruvate Carboxylase Deficiency.
Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, these disorders can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with these disorders.
About Argininosuccinic Acidemia
When amino acids from food are broken down in the body, a waste product called ammonia is produced. Individuals with Argininosuccinic Acidemia are unable to break down ammonia. This causes a harmful amount of ammonia to build up in the body.
Untreated Argininosuccinic Acidemia can lead to developmental delays, intellectual disability, liver and brain damage, coma, or death.
Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Argininosuccinic Acidemia affects approximately 1 in 70,000 babies born in the United States.
Condition Type
Argininosuccinic Acidemia is an Amino Acid Disorder and is also classified as a Urea Cycle Disorder.
Also Known As
Argininosuccinate, Argininosuccinate Lyase Deficiency, Argininosuccinic Acidemia, Argininosuccinyl-CoA Lyase Deficiency, Arginosuccinic Acid Lysase Deficiency, ASA, ASL Deficiency, Citrulline