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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, Arginase Deficiency can result in harmful effects.
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 Arginase Deficiency.
About Arginase Deficiency
Arginase Deficiency causes harmful amounts of arginine and ammonia to build up in the body. Children affected by Arginase Deficiency are not able to break down an amino acid known as arginine.
If untreated, Arginase Deficiency can cause muscle problems and developmental delay. Through early detection and proper treatment the severity of symptoms can be reduced.
Frequency
Arginase Deficiency affects approximately 1 in 300,000 babies in the United States.
Condition Type
Arginase Deficiency is an Amino Acid Disorder and is also classified as a Urea Cycle Disorder.
Also Known As
Argininemia, ARG, ARG1 Deficiency, Hyperargininemia, Arginine