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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 Type II
There are several forms of citrullinemia. Type II is a condition in which the body is unable to make citrin, which helps to break down sugar to produce energy for the body. This is not the same as citrullinemia type I, which is a disorder with a similar name but has different symptoms, outcomes and treatment. Signs of Citrullinemia Type II can begin in infancy, adolescence and adulthood. Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Citrullinemia Type II affects approximately 1 in 100,000 to 1 in 230,000 primarily in the Japanese population
Condition Type
Citrullinemia Type II is an Amino Acid Disorder and is also classified as a Urea Cycle Disorder.
Also Known As
CIT II (Type 2), Citrin Deficiency (Type 2), Citrulline, Neonatal intrahepatic cholestasis caused by citrin deficiency (neonatal form only, NICCD (neonatal form only, Type 2)