Abstract
* Abbreviations: NBS — : newborn screening IEM — : inborn errors of metabolism Newborn screening (NBS) is a system that has been called one of the greatest public health programs in the United States.1 Each year, >98% of ∼4 million newborns in the United States are screened, and >12 500 are diagnosed with a condition.2 Gauging its success has been limited by lack of data regarding long-term outcomes of identified patients. In this issue of Pediatrics , Mutze et al3 report long-term clinical outcomes in 306 patients with inborn errors of metabolism (IEM) identified between 1999 and 2016 through NBS in the laboratory at the University Hospital Heidelberg by using tandem mass spectroscopy. Patients were followed at 5 sites in Germany until a median age of 6.2 years (ranging from 1 to 17.4 years). The cohort of patients had 10 of the 12 IEMs on the national NBS panel in Germany, all of which are on the core or secondary list of the Recommended Uniform Screening Panel of the US Department of Health and Human Services.4 The authors report the incidence of acute metabolic decompensation in their cohort, a risk factor in many … Address correspondence to Cynthia M. Powell, MD, Division of Genetics and Metabolism, CB# 7487, Medical School Wing E, UNC-CH, Chapel Hill, NC 27599-7487. E-mail: powellcm{at}med.unc.edu
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