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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, Isovaleric Acidemia 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 Isovaleric Acidemia.
About Isovaleric Acidemia
Isovaleric Acidemia causes harmful amounts of organic acids and toxins to build up in the body. Children affected by Isovaleric Acidemia are not able to properly break down certain proteins.
If untreated, Isovaleric Acidemia can cause seizures, brain damage, and death. However, if the condition is detected early and proper treatment is begun, the severity of symptoms of symptoms can be reduced.
Frequency
Isovaleric Acidemia affects approximately 1 in 230,000 babies in the United States.
Condition Type
Isovaleric Acidemia is an Organic Acid Disorder.