Positive Newborn Screen for MCAD -- Now What?

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

Disclosures

July 10, 2014

Editorial Collaboration

Medscape &

Case Continued: Diagnostic Test Results

The results of the laboratory testing performed in your office are now returned. They are:

  • Plasma acylcarnitines: markedly elevated C6, C8, C10:1, and C10; ratio of C8 to C10 was markedly elevated

  • Plasma free and total carnitine: free 10 µmol/L; total 15 µmol/L

  • Urine organic acids: increased hexanoylglycine and suberylglycine

These results were interpreted as biochemical evidence of MCAD deficiency.

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