Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia.

Abstract

* Abbreviations: DG — : Duarte variant galactosemia NBS — : newborn screening In their article “Developmental Outcomes in Duarte Galactosemia” in this issue of Pediatrics , Carlock et al1 report the results of a landmark study in which it was demonstrated that Duarte variant galactosemia (DG) is not associated with an increased risk of developmental abnormalities and does not require dietary treatment. The field has been waiting 50 years for this study, since newborn screening (NBS) for galactosemia began.2 This work can be used to impact clinical care and NBS program planning. It can also be used to teach us important lessons about the public funding of research into clinical outcomes and the importance of data-driven clinical decision-making. The study was well designed and robustly powered to answer the questions asked, and the results clearly reveal through careful neuropsychological testing that no significant developmental differences are seen in children with this biochemically mild variant of galactosemia, compared with controls. The immediate implication of this for health care providers is obvious; dietary therapy, which always includes stopping breastfeeding, is not indicated for infants … Address correspondence to Shawn E. McCandless, MD, Department of Pediatrics, University of Colorado Denver AMC, 13121 E 17th Ave, L-28 Fourth Floor, MS 8400, Aurora, CO 80045. E-mail: shawn.mccandless{at}ucdenver.edu