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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, Maple Syrup Urine Disease 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 Maple Syrup Urine Disease.
About Maple Syrup Urine Disease
Maple Syrup Urine Disease is named after the sweet odor of untreated babies’ urine. People affected by Maple Syrup Urine Disease are not able to break down certain proteins.
If untreated, Maple Syrup Disease can cause seizures, coma, and death. Early detection and proper treatment can reduce the severity of symptoms.
Frequency
Maple Syrup Urine Disease affects approximately 1 in 185,000 babies in the United States.
Condition Type
Maple Syrup Urine Disease is an Amino Acid Disorder.
Also Known As
MSUD, Ketoacidemia, Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency, Branched-Chain Ketoaciduria, BCKD Deficiency, Leucine