Krabbe Disease is a severe and fatal disease that occurs in 1 in 100,000 births. Babies with infantile Krabbe disease can be identified through newborn screening assays that utilize a combination of GALC enzyme level and the biomarker psychosine.  Treatment of babies with infantile Krabbe disease has the best outcomes if delivered in the first month of life.  Current treatment of babies with infantile Krabbe disease is hematopoietic stem cell transplantation preferably utilizing an unrelated umbilical cord blood donor.

Newborn screening can also identify babies at risk for later onset Krabbe disease. Practice guidelines for management and subsequent follow-up of babies diagnosed through newborn screening are available.

Currently, 10 states include Krabbe Disease in their newborn screening panels and the condition is under review for inclusion on the Recommended Uniform Screening Panel by the Advisory Committee on Heritable Disorders in Newborns and Children.

The course is led by Joanne Kurtzberg, MD (Duke Medical University), Dr. Dietrich Matern, MD, PhD (Mayo Clinic), and Joseph Orsini, PhD (Wadsworth Center).

Keywords: Krabbe Disease, Globoid Cell Leukodystrophy, Newborn Screening, Krabbe Leukodystrophy, GALC Deficiency, Galactocerebrosidase Deficiency, Infantile Globoid Cell Leukodystrophy, Krabbe’s Disease, Krabbe’s Leukodystrophy, Late-Onset Globoid Cell Leukodystrophy, Leukodystrophy, Globoid Cell, Classic, Leukodystrophy, Globoid Cell, Early-Onset, Leukodystrophy, Globoid Cell, Infantile, Leukodystrophy, Globoid Cell, Late-Onset