Glutaric aciduria type 2 and newborn screening: commentary

Abstract

Glutaric aciduria type 2 is increasingly being identified through expanded newborn screening programs by tandem mass spectrometry with a goal of decreasing morbidity and mortality. This article presents 3 patients with adverse outcomes in spite of early recognition by newborn screening. Additional long term studies are necessary to determine the efficacy of newborn screening to affect outcome in this disorder.