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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, Malonic 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 Malonic Acidemia.
About Malonic Acidemia
Malonic Acidemia causes harmful amounts of organic acids and toxins to build up in the body. Children affected by Malonic Acidemia are not able to break down certain proteins.
The symptoms of untreated Malonic Acidemia vary and can include developmental delays, weak muscle tone, seizures, and an enlarged, weak heart. However, if the condition is detected early and proper treatment is begun, the severity of symptoms may be reduced.
Frequency
Malonic Acidemia is extremely rare. Fewer than 30 cases have been reported.
Condition Type
Malonic Acidemia is an Organic Acid Disorder.
Also Known As
C3DC, MAL, Malonic Aciduria, Malonyl-CoA Decarboxylase Deficiency, Malonyl-Coenzyme A Decarboxylase Deficiency, MCD Deficiency