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, MCAD Deficiency 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 MCAD Deficiency.
About MCAD Deficiency
MCAD Deficiency is a disorder in which the body is unable to break down certain fats. If MCAD Deficiency is not treated, it can cause brain damage, seizures, breathing problems, coma, and even death. However, if the condition is detected early and proper treatment is begun, children with MCAD Deficiency can lead healthy lives.
Frequency
MCAD Deficiency affects approximately 1 in 15,000 babies in the United States.
Condition Type
MCAD Deficiency is a Fatty Acid Oxidation Disorder.
Also Known As
MCADD, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, ACADM Deficiency, MCADH Deficiency
More Information
For Parents
- Baby’s First Test opens in a new tab
- Star-G Parents’ Fact Sheet opens in a new tab
- Medical Home Portal opens in a new tab
For Physicians
- ACMG ACT Sheet opens in a new tab
- Genetics Home Reference opens in a new tab
- Emergency Treatment Protocol opens in a new tab (New England Consortium of Metabolic Programs)