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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 Citrullinemia
There are several forms of Citrullinemia. Type I or Classic Citrullinemia is causes harmful amounts of ammonia to build up in the body. If untreated, Citrullinemia Type I can cause coma, brain damage, or death. Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Citrullinemia Type I affects approximately 1 in 57,000 babies born in the United States.
Condition Type
Citrullinemia is an Amino Acid Disorder and is also classified as a Urea Cycle Disorder.
Also Known As
Argininosuccinate Synthase Deficiency (Type 1), Argininosuccinic Acid Synthetase Deficiency (Type 1), ASAS (Type 1), CIT, Citrulline, Citrullinemia (Type 1), Citrullinuria (Type 1)