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

Newborn screening for Krabbe's disease.

Author information

1
Laboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York. joseph.orsini@health.ny.gov.
2
Laboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
3
Departments of Chemistry and Biochemistry, University of Washington, Seattle, Washington.

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.

KEYWORDS:

GALC; galactocerebrosidase; lysosomal storage disorder; tandem mass spectrometry

PMID:
27638592
PMCID:
PMC5328187
DOI:
10.1002/jnr.23781
[Indexed for MEDLINE]
Free PMC Article

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