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

doi:10.1038/gim.2015.211

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2016

Orsini Joseph J, Kay Denise M, Saavedra-Matiz Carlos A, Wenger David A, Duffner Patricia K, Erbe Richard W, Biski Chad, Martin Monica, Krein Lea M, Nichols Matthew, Kurtzberg Joanne, Escolar Maria L, Adams Darius J, Arnold Georgianne L, Iglesias Alejandro, Galvin-Parton Patricia, Kronn David F, Kwon Jennifer M, Levy Paul A, Pellegrino Joan E, Shur Natasha, Wasserstein Melissa P, Caggana Michele

Abstract excerpt

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...

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PMID: 26795590
DOI: 10.1038/gim.2015.211

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GALC

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