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Review
. 2016 Nov;94(11):1063-75.
doi: 10.1002/jnr.23781.

Newborn screening for Krabbe's disease

Joseph J Orsini  1 , Carlos A Saavedra-Matiz  2 , Michael H Gelb  3 , Michele Caggana  2
Affiliations
Review

Newborn screening for Krabbe's disease

Joseph J Orsini et al. J Neurosci Res. 2016 Nov.

Abstract

Live newborn screening for Krabbe's disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Missouri is ∼1 per 500,000; however, patients who develop later-onset forms of KD may still emerge. This Review provides an overview of the processes used to develop the screening and followup algorithms. It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options for infants with early-infantile Krabbe's disease are not curative, over time treatment options should improve; in the meantime, it is essential to evaluate the lessons learned and to ensure that screening is completed in the best possible manner until these improvements can be realized. © 2016 Wiley Periodicals, Inc.

Keywords: GALC; galactocerebrosidase; lysosomal storage disorder; tandem mass spectrometry.

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Conflict of interest statement

CONFLICT OF INTEREST STATEMENT

J.J. Orsini, C.A. Saavedra-Matiz, and M. Caggana declare that they have no conflicts of interest with regard to publication of this article. M.H. Gelb is a consultant with PerkinElmer and is also working with PerkinElmer to develop assay reagents and kits for newborn screening of LSDs.

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