Krabbe disease is a lysosomal disorder (LD) caused by pathogenic variants in the galactosylceramidase (GALC) gene, also called galactocerebrosidase. The GALC gene encodes for an enzyme (called galactosylceramidase or GALC) that breaks down galactosylceramidase into galactose and ceraminde. The GALC enzyme also breaks down galactosylsphinegosine, otherwise known as psychosine. A deficiency of the GALC enzyme results in the accumulation of psychosine. Psychoine causes apoptosis of oligodendrocyctes and Schwann cells, which are responsible for maintaining myelin in the central and peripheral nervous systems, respectively. There are two types of Krabbe disease: Infantile Krabbe disease (IKD) and later-onset Krabbe disease (LOKD). Infantile Krabbe disease was added to the Recommended Uniform Screening Panel (RUSP) in July 2024.

NewSTEPs partners with state newborn screening programs, partner organizations, and federal agencies to provide a central location for Krabbe resources. If you have additional resources that you would like included, please contact NewSTEPs.