Krabbe disease (KD) is a rare and devastating neurodegenerative disorder caused by mutations in the GALC gene, resulting in increased accumulation of galactosylcerebroside in the brain (MIM 24500). Although there are several subtypes of KD, early infantile Krabbe disease (EIKD) is the most severe, resulting in the loss of developmental milestones, weakness, seizures, and death, typically by 2 years of age. Later-onset forms are also reported.

Similar to Tay-Sachs disease and other neurodegenerative lysosomal storage diseases, there is no curative treatment, and patients are almost always diagnosed with a disease too late to benefit from early interventions to attenuate disease progression. When administered within the first month of life, bone marrow or hematopoetic stem cell transplantation has slowed or attenuated disease progression of EIKD in some children (most commonly in individuals diagnosed with the disease prenatally or secondary to affected siblings). This finding has led 9 states...

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