Diagnosis guide
Krabbe disease
Krabbe disease is an inherited condition in which a missing enzyme, called GALC, lets a harmful substance build up and destroy the protective coating around nerves. The infantile form is the most common; it usually begins before age 1 and moves fast. Less often, symptoms start later in childhood, in the teens or in adulthood, and progress more slowly. The age at onset matters because a donor stem cell transplant helps most when it is done very early, ideally before symptoms, and cannot undo damage already done. In July 2024 infantile Krabbe disease was added to the US list of conditions recommended for newborn screening; each state decides whether and when to screen.
In short
- Krabbe disease is an inherited condition in which a missing enzyme lets a harmful substance destroy the protective coating around nerves.
- Most children have the infantile form, which starts before age 1 and moves fast; later-onset forms progress more slowly.
- A donor stem cell transplant helps most when it is done very early, ideally before symptoms, which is why newborn screening matters.
Find the subtype on your report
The exact diagnosis shapes the treatment options. Your care team can explain the name on your report.
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.
Donor transplant optionLate-infantile and juvenile Krabbe disease
Later-onset Krabbe disease is a GALC-related disorder in which myelin damage begins after the earliest infantile period. It can affect walking, vision, coordination and other neurologic functions, with variable progression.
Donor transplant option
Support for patients and families
These independent organizations offer information and support. JBF is not affiliated with them.
- Hunter's Hope Foundation Family care for Krabbe disease and other leukodystrophies, including an equipment exchange, resource library, family symposium and care center network.United States
- KrabbeConnect Connects Krabbe families with patient support, caregiver guidance, expert contacts, webinars and a patient assistance program.United States, with Spanish-language resources
- United Leukodystrophy Foundation Supports people and families living with any leukodystrophy through virtual support groups, medical referrals, education and caregiver help.United States
Someone may be waiting for a match.
Some people with Krabbe disease are treated with a transplant from a donor. When no relative matches, that donor is often a stranger who joined a registry.
Join the registry
JBF points you to the official registry that serves your country. It explains who can join and what donation involves.
Help a family run a drive
If someone you love needs a donor, a registration drive can add many potential donors at once, for them and for others.
Support this work
Gifts to the Jada Bascom Foundation support donor-awareness education like this guide, community outreach, drive planning and referrals to official registries.
Sources and further reading
- Krabbe disease
MedlinePlus Genetics, US National Library of Medicine, Accessed 2026-09-24 - Secretary’s response adding infantile Krabbe disease to the Recommended Uniform Screening Panel
US Department of Health and Human Services (HRSA), 2024-07-01 - Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook / NCBI Bookshelf, 2024-04-11
