Long-Term Functional Outcomes following Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease

Krabbe disease, also known as globoid leukodystrophy, is a progressive and fatal neurologic disease caused by autosomal recessive mutations in the galactocerebrosidase (GALC) gene, which lead to deficiency of the enzyme galactocerebrosidase. As a result, psychosine and other toxic metabolites accumulate and severe demyelination occurs [1]. In the most severe form, early infantile Krabbe disease (EIKD), patients develop severe irritability, poor feeding and spasticity in the first months of life with subsequent neurodegeneration and death by 2 years of age if untreated.

Source: Biology of Blood and Marrow Transplantation - June 19, 2018 Category: Hematology Authors: Heather Allewelt, Mahsa Taskindoust, Jesse Troy, Kristin Page, Susan Wood, Suhag Parikh, Vinod K. Prasad, Joanne Kurtzberg Source Type: research