Inherited metabolic disorders
Infantile Krabbe disease
Infantile Krabbe disease is a genetic disorder, usually caused by GALC deficiency, that damages myelin in the brain and peripheral nerves. Early disease can progress quickly, making assessment before symptoms especially important.
Other names and abbreviations
IKD · EIKD · infantile GLD · GALC deficiency · Krabbe disease · globoid cell leukodystrophy · Early-infantile globoid cell leukodystrophy · Infantile galactocerebrosidase deficiency
Where transplant fits
Allogeneic transplantation can improve outcomes when performed very early, ideally before symptoms in an infant predicted to have early-onset disease. It uses donor cells but does not guarantee normal development or reverse advanced neurologic injury.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- An early-onset Krabbe phenotype in infancy; a low enzyme-screening result alone does not predict every infant’s course.
- Other treatment options
- Rapid specialist confirmation after screening or family diagnosis is important. Neurologic, feeding, respiratory, rehabilitation and comfort care address existing symptoms.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
Treatment depends on confirmatory findings and stage, not the screening result alone. The benefit observed in presymptomatic infants must not be generalized to advanced symptomatic disease.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Krabbe Disease
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook · 2024-04-11
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
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