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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, Glutaric Acidemia, Type I (GA-1) 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 GA-1.
About GA-1
Glutaric Acidemia, Type I (GA-1) causes harmful amounts of organic acids and toxins to build up in the body. Children affected by GA-1 are not able to break down certain proteins.
If untreated, GA-1 can cause delayed growth, intellectual disabilities, seizures, coma, and permanent brain damage. However, if the condition is detected early and proper treatment is begun, the severity of symptoms can be reduced.
Frequency
GA-1 affects approximately 1 in 40,000 babies in the United States.
Condition Type
GA-1 is an Organic Acid Disorder.
Also Known As
C5DC, C6OH, Dicarboxylic Aminoaciduria, Glutarate-aspartate Transport Defect, Glutaric Acidemia, Glutaric Aciduria Type I, Glutaryl-CoA Dehydrogenase Deficiency