Abstract
Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with moderate to severe handicaps, and two died from transplant-related complications. An additional forty-six asymptomatic infants were found to be at moderate or high risk for disease. Screening for KD is both analytically and medically challenging; since screening for KD possesses both of these challenges, and many more, the lessons learned thus far could be used to predict the challenges that may be faced when screening for other lysosomal storage disorders (LSDs). This paper briefly reviews reports of NBS for LSDs from varied world programs. The challenges encountered in screening for KD in NY will be highlighted, and this experience, combined with hindsight, will inform what may be expected in the future as screening for LSDs expands.
Highlights
Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006
Since it is possible that newborns who screen positive for a condition with a late-onset component will never develop symptoms, newborn screening programs have difficulty segregating true from false positives, and this conundrum persists for many years
When newborn screening for KD began in NY, it was not possible to distinguish between the early- and late-onset phenotypes using the dried blood spot (DBS) enzyme assay
Summary
Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. After eight years of screening, there were five infants identified with early-onset Krabbe disease. A recent review on NBS for KD highlights many of the challenges and lessons learned over the course of 10+ years of live screening for this challenging disorder [3]. The other diseases were Pompe, Fabry, Gaucher, and Niemann Pick A/B Of these five LSDs, only KD was known to have a predominant infantile form with 80%–90% of cases being diagnosed in the first year of life [5]. Since screening for KD possesses both of these challenges, and many more, the lessons learned far could be used to predict the challenges that may be faced when screening for other LSDs. This paper briefly reviews reports of NBS for LSDs from varied world programs. The challenges encountered in screening for KD in NY will be highlighted, and this experience, combined with hindsight, will inform what may be expected in the future as screening for LSDs expands
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