Diagnosis guide · Inherited metabolic disorders
Krabbe disease
If you or someone you love has just heard this diagnosis, start here. It covers several subtypes, and this guide shows how they differ, so you can find the one on your report.
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 one enzyme is missing. Without it, a harmful substance destroys 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. That is why newborn screening matters.
2 subtypes
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
For some of these subtypes, a patient needs a donor who is not a relative. The registry that serves your country explains who can join.
See if you can joinNearby
Related diagnosis guides
What to know
Key facts
- Transplant timing
- Ideally by 30 days of life for the infantile formU.S. expert recommendations after a positive newborn screen, Neurology: Genetics, April 2026. Source: Transplant timing
- Newborn screening
- Infantile Krabbe added to the U.S. recommended panel on July 1, 2024U.S. Recommended Uniform Screening Panel, as reported in Neurology: Genetics, April 2026. Source: Newborn screening
- Inheritance
- Autosomal recessive: a changed GALC gene from each parentMedlinePlus Genetics (last updated 2018). Source: Inheritance
How Krabbe disease is diagnosed
In U.S. states that screen, the first sign of infantile Krabbe disease may be an abnormal newborn blood spot test. The test checks for low activity of the GALC enzyme. If it is low, a second test measures psychosine, the toxic substance that builds up. On the blood spot, a psychosine level of 10 nmol/L or higher points to the infantile form. A lower but raised level (2 to 9 nmol/L) can flag babies who may develop symptoms after 12 months of age, though some never do.
A screening result is not a diagnosis. Specialists confirm it with an enzyme test on white blood cells, genetic testing of both copies of the GALC gene and a psychosine test. Parents may be tested too, to show that the two gene changes came from different parents. For the infantile form, guidelines aim for screening results within the first week of life and referral to a transplant center by the third week.
Children and adults who were not screened are diagnosed after symptoms begin. Signs such as extreme fussiness, stiff muscles, trouble walking or vision loss lead to a brain MRI and nerve tests, then enzyme and gene tests. Diagnosis can take months. In a U.S. study of 35 children whose symptoms began between 6 months and 3 years of age, the median wait from first symptoms to diagnosis was 3.5 months.
When one child is diagnosed, brothers and sisters are usually offered testing. A sibling found before symptoms may be able to have early treatment.
When transplant specialists are usually consulted
U.S. consensus guidelines advise referral of a baby with infantile Krabbe disease to a center experienced in these transplants no later than the third week of life, so that transplant can begin within the first 4 weeks.
Read the guidanceLooking ahead
Outlook for Krabbe disease
Infantile Krabbe disease is severe. Without a transplant, it is fatal in early childhood, and experts put average life expectancy at about 2 years. Later-onset forms move more slowly. People with them may live many years after symptoms begin, but the pace varies widely.
A transplant before symptoms can change the outlook for babies with the infantile form. Long-term studies of these children report 10-year survival of 75% to 85%, depending on age at transplant. About 10 to 15 in 100 babies die from transplant complications. Most survivors keep learning, but they still have delays, most often in walking and other movement.
A transplant after symptoms begin helps much less. In the original study of early transplant, published in 2005, babies who already had symptoms did not gain new skills after transplant, and 57% died within a few years. For later-onset forms, transplant has been studied much less. Its benefit is uncertain, and it may help only when done very early in the disease.
These results come from small groups of children treated at a few experienced centers. They cannot predict how one child will do.
Common questions
What is the life expectancy of a child with Krabbe disease?
It depends on the form and on treatment. Without treatment, the infantile form is fatal in early childhood. Later-onset forms move more slowly, and people may live many years after symptoms begin. A transplant before symptoms can change the outlook for babies with the infantile form, though most of these children still have developmental delays. The outlook section on this page gives the figures, with the groups they describe. No number can predict one child's course.
How common is Krabbe disease?
It is rare. MedlinePlus Genetics says it affects about 1 in 100,000 people in the United States. A 2026 expert paper gives a range of about 0.4 to 1 in 100,000 births. In its first 8 years of newborn screening, New York State found the infantile form in about 1 in 394,000 babies, fewer than expected. Krabbe disease is more common in a few isolated communities in Israel.
What are the types of Krabbe disease?
Doctors group Krabbe disease by the age when symptoms begin. The infantile form starts in the first year of life. It is the most common form and moves fastest. In a nationwide German study of 38 people, 30 had symptoms in their first year, and 27 of those 30 began in the first 6 months. Later-onset forms start in childhood, the teens or adulthood. They often begin with trouble walking or seeing, and their pace varies widely. Studies have used different age cut-offs for the later forms.
Is there a cure for Krabbe disease?
No. A donor stem cell transplant is the only treatment available today that can change the course of the disease. For the infantile form, it works only if it is done before symptoms begin. Experts stress that transplant is a treatment, not a cure. Most treated children still have delays, such as weak muscles and trouble walking on their own. Choosing comfort-focused care without a transplant is also an option families are offered.
Is Krabbe disease part of newborn screening?
In some places. New York State began screening in 2006. The U.S. Secretary of Health and Human Services added infantile Krabbe disease to the federal Recommended Uniform Screening Panel on July 1, 2024. Each state decides what its program screens for. As of November 2025, 16 more states had adopted Krabbe screening, and their methods differ. The federal recommendation calls for two steps: a test for low enzyme activity, then a test for a raised level of a toxic substance called psychosine.
Why does timing matter so much for a Krabbe transplant?
Damage starts very early. A 2022 report described six U.S. babies found by newborn screening. They looked well, yet all showed signs of active disease on nerve or brain tests at 1 to 3 weeks of age. A transplant works through donor cells that settle in the marrow and brain and make the missing enzyme. It can stop the disease from getting worse. U.S. guidelines therefore ask for referral to an experienced transplant center no later than the third week of life, so transplant can start within the first 4 weeks. After symptoms begin, results are much worse.
For your next appointment
Krabbe disease
From the Jada Bascom Foundation disease library, jadabascomfoundation.org. Printed .
Questions to bring to your care team
- Do the psychosine level and gene results point to the infantile form or a later-onset form?
- How quickly can we be referred to a transplant center experienced with Krabbe disease?
- If our child is at risk of a later-onset form, how often will checkups happen and what will they look for?
- Should brothers and sisters be tested, and what would their results mean?
- What is the exact name of the diagnosis or subtype, and what does it mean for treatment?
- What is the goal of each treatment you are suggesting?
- Is a transplant being considered? Why now, or why not yet?
- Should brothers and sisters have HLA typing, and when does a donor search start?
- What happens if a fully matched donor is not found?
- Where can our family find support during treatment?
A one-page list to take to the next appointment, with room for notes.
Supporting someone with a diagnosisSupport 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
Ways to help
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 someone you love find a donor
If someone you love needs a donor, our family guide explains practical ways to help. 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 page, community outreach, drive planning and referrals to official registries.
Keep learning
Understanding transplant
Short explainers on what a transplant is and what it means for a family.
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 - Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease
Neurology: Genetics (Thompson Stone and colleagues), 2026 - Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Orphanet Journal of Rare Diseases (Kwon JM, et al.), 2018-02-01; accessed 2026-09-26 - Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease
Blood Advances (Page KM, et al.), 2022-05-10; accessed 2026-09-26 - Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
Orphanet Journal of Rare Diseases (Krieg SI, et al.), 2020-09-10; accessed 2026-09-26 - A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life
Orphanet Journal of Rare Diseases (Bascou N, et al.), 2018-08-09; accessed 2026-09-26 - National U.S. Patient and Transplant Data for Krabbe Disease
Frontiers in Pediatrics (Ghabash G, et al.), 2021-11-11; accessed 2026-09-26 - Addition of Metachromatic Leukodystrophy to the Recommended Uniform Screening Panel
HRSA, US Department of Health and Human Services (Federal Register), 2025-12-22; accessed 2026-09-26
