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Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Publication ,  Journal Article
Orsini, JJ; Kay, DM; Saavedra-Matiz, CA; Wenger, DA; Duffner, PK; Erbe, RW; Biski, C; Martin, M; Krein, LM; Nichols, M; Kurtzberg, J; Kwon, JM ...
Published in: Genet Med
March 2016

PURPOSE: Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New York State (NYS) implemented newborn screening for KD in 2006. METHODS: Dried blood spots from newborns were assayed for GALC enzyme activity using mass spectrometry, followed by molecular analysis for those with low activity (≤12% of the daily mean). Infants with low enzyme activity and one or more mutations were referred for follow-up diagnostic testing and neurological examination. RESULTS: Of >1.9 million screened, 620 infants were subjected to molecular analysis and 348 were referred for diagnostic testing. Five had enzyme activities and mutations consistent with infantile KD and manifested clinical/neurodiagnostic abnormalities. Four underwent transplantation, two are surviving with moderate to severe handicaps, and two died from transplant-related complications. The significance of many sequence variants identified is unknown. Forty-six asymptomatic infants were found to be at moderate to high risk for disease. CONCLUSIONS: The positive predictive value of KD screening in NYS is 1.4% (5/346) considering confirmed infantile cases. The incidence of infantile KD in NYS is approximately 1 in 394,000, but it may be higher for later-onset forms.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

March 2016

Volume

18

Issue

3

Start / End Page

239 / 248

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Predictive Value of Tests
  • Polymorphism, Single Nucleotide
  • New York
  • Neonatal Screening
  • Mass Spectrometry
  • Leukodystrophy, Globoid Cell
  • Infant, Newborn
  • Humans
  • Hematopoietic Stem Cell Transplantation
 

Citation

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Orsini, J. J., Kay, D. M., Saavedra-Matiz, C. A., Wenger, D. A., Duffner, P. K., Erbe, R. W., … New York State Krabbe Disease Consortium, . (2016). Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genet Med, 18(3), 239–248. https://doi.org/10.1038/gim.2015.211
Orsini, Joseph J., Denise M. Kay, Carlos A. Saavedra-Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad Biski, et al. “Newborn screening for Krabbe disease in New York State: the first eight years' experience.Genet Med 18, no. 3 (March 2016): 239–48. https://doi.org/10.1038/gim.2015.211.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, et al. Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genet Med. 2016 Mar;18(3):239–48.
Orsini, Joseph J., et al. “Newborn screening for Krabbe disease in New York State: the first eight years' experience.Genet Med, vol. 18, no. 3, Mar. 2016, pp. 239–48. Pubmed, doi:10.1038/gim.2015.211.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M, New York State Krabbe Disease Consortium. Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genet Med. 2016 Mar;18(3):239–248.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

March 2016

Volume

18

Issue

3

Start / End Page

239 / 248

Location

United States

Related Subject Headings

  • Treatment Outcome
  • Predictive Value of Tests
  • Polymorphism, Single Nucleotide
  • New York
  • Neonatal Screening
  • Mass Spectrometry
  • Leukodystrophy, Globoid Cell
  • Infant, Newborn
  • Humans
  • Hematopoietic Stem Cell Transplantation