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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, Methylmalonic Acidemia (MMA) 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 MMA.
About MMA
A newborn screening with elevated C3 may indicate a Methylmalonic Acidemia (MMA). There are several different forms of MMA, each with different causes, treatments, and outcomes. Confirmatory testing is necessary to diagnose which form of MMA your baby may have.
Symptoms of MMA usually appear in early infancy and can vary from mild to life-threatening. Some children who receive early and ongoing treatment can have typical development and lead healthy lives.
Frequency
MMA affects between 1 in 50,000 and 1 in 100,000 babies in the United States.
Condition Type
MMA is an Organic Acid Disorder.
Also Known As
Adenosylcobalamin Deficiency, C3, Cbl A, B, C, D, F, Cobalamin A, B, Combined Deficiency of Methylmalonyl CoA Mutase and Homocystinuria, MCM Deficiency, Methylmalonic Acidemia, Methylmalonic Acidemia (Mutase Deficiency), Methylmalonic Aciduria, Methylmalonyl-CoA Mutase Deficiency, Methyltetrahydrofolate Methyltransferase Deficiency, MMAA, MMAB, MUT, Type 2 Vitamin B12 Metabolic Defect