Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry

The introduction of tandem mass spectrometry to newborn screening has subst antially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferas e deficiency II detected by expanded newborn screening with tandem mass spe ctrometry. The neonate presented with dysmorphic facial features, structura l malformations, renal failure, seizures, and cardiac arrythmias and died o n the third day of life. This experience illustrates the importance of expa nded newborn screening to avoid missing a metabolic diagnosis in early infa ntile death.