Positive Newborn Screen for MCAD -- Now What?

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

Disclosures

July 10, 2014

Editorial Collaboration

Medscape &

Emergency Management of MCAD Deficiency

Satisfactory long-term outcomes in patients with MCAD deficiency depend on close vigilance for early signs of illness and rapid and aggressive medical intervention when necessary.[9]

The parents must have an emergency plan, including a dietary regimen to follow during times of illness and letters explaining the child's diagnosis and appropriate management (primarily the prompt administration of intravenous glucose) to give to providers upon presentation to emergency care settings.[22] If the child is unable to take his or her normal diet or misses consecutive meals, the child should be evaluated with consideration to obtaining laboratory studies such as blood glucose, electrolytes, complete blood count, plasma acylcarnitine profiles, total and free carnitine levels, and liver function tests. Because undigested fatty acids can accumulate in the liver, mild liver abnormalities can result, such as an elevated serum alanine aminotransferase level.

If a stressful illness occurs, with repeated vomiting, fever higher than 101.5 °F, or lethargy, hospital admission for short-term intravenous glucose treatment should be considered, using 1.5 times maintenance rates of dextrose 10% with electrolytes. This rate can be reduced to maintenance when the child is able to resume a normal diet but should be continued until symptoms disappear. Intravenous L-carnitine at 25-50 mg/kg/day divided every 6 hours should be given if the child cannot take oral L-carnitine.

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