Glutaric aciduria type 2 and newborn screening: commentary.
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.
Vockley
Jerry
J
University of Pittsburgh, School of Medicine and Graduate School of Public Health, Departments of Pediatrics and Human Genetics, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA. gerard.vockley@chp.edu
D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods*; D011379:Prognosis