PEDIATRICS Vol. 107 No. 6 June 2001, p. e103

ELECTRONIC ARTICLE:
Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry

Received Sep 13, 2000; accepted Jan 30, 2001.

Simone Albers^*, Deborah Marsden^*, , Elizabeth Quackenbush^*, , Ann R. Stark^§, Harvey L. Levy^*, and Mira Irons^*

From the ^* Division of Genetics, Children's Hospital and Department of Pediatrics, Harvard Medical School;  New England Newborn Screening Program and the University of Massachusetts Medical School, Boston, Massachusetts; ^§ Division of Newborn Medicine, Children's Hospital and Department of Pediatrics, Harvard Medical School; and the  Center for Blood Research, Harvard Medical School, Boston, Massachusetts.

The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal failure, seizures, and cardiac arrythmias and died on the third day of life. This experience illustrates the importance of expanded newborn screening to avoid missing a metabolic diagnosis in early infantile death.

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