Positive Newborn Screen for MCAD -- Now What?

Stephanie L. Austin, MS, MA; Laura A. Stokowski, RN, MS

Disclosures

July 10, 2014

Editorial Collaboration

Medscape &

The Call From the State Screening Laboratory

You receive a phone call from the state screening laboratory about one of your patients, a 9-day-old infant boy born at 39 weeks of gestation by normal vaginal delivery with an Apgar score of 9/9. He was seen once in your office at 3 days of age and was apparently healthy; he was mildly jaundiced and breastfeeding exclusively.

The lab informs you that this infant's newborn screen is out of range for medium-chain acyl coenzyme A (CoA) dehydrogenase (MCAD) deficiency. The octanoylcarnitine (C8) level in this infant's sample was 5.23 µmol/L, which exceeded the lab's cut-off of 0.6 µmol/L.

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