Krabbe Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Krabbe Disease?
A pediatric neurologist, a doctor who treats brain and nerve conditions in children, usually leads care for Krabbe disease. A medical geneticist, a doctor who diagnoses inherited conditions, is also involved. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Krabbe disease?
Krabbe disease is a severe condition of the nervous system. It is also called globoid cell leukodystrophy. A leukodystrophy is a disorder in which myelin is lost. Myelin is the protective covering around nerve cells. It lets nerve signals travel quickly.
In the United States, Krabbe disease affects about 1 in 100,000 people.
Symptoms
The most common form is the infantile form. It usually begins before age 1. Early signs include:
- Irritability and crying a lot.
- Muscle weakness and stiff posture.
- Feeding difficulties.
- Fevers with no sign of infection.
- Delayed mental and physical development.
As the disease gets worse, muscles weaken further. This affects a baby's ability to move, chew, swallow, and breathe. Babies also lose vision and have seizures. Hearing loss can also happen. Children with the infantile form rarely live beyond age 2.
Less often, Krabbe disease begins in childhood, the teen years, or adulthood. These are called late-onset forms. Vision problems and trouble walking are the most common first signs. People with late-onset Krabbe disease may live many years after symptoms begin.
Causes and who gets it
Changes in the GALC gene cause Krabbe disease. This gene makes an enzyme called galactosylceramidase. An enzyme is a protein that helps the body break down substances. This one breaks down certain fats.
When the enzyme does not work well, these fats build up. They damage the cells that make myelin. Without myelin, nerves cannot send signals properly.
Krabbe disease is autosomal recessive. This means both copies of the gene have changes. The parents each carry one changed copy, but they usually have no symptoms. If both parents carry the changed gene, each child has a 1 in 4 chance of getting the disease.
How doctors diagnose it
The doctor does a physical exam and asks about symptoms. Tests that may be done include:
- A blood test for the level of the enzyme in white blood cells.
- Genetic testing for a change in the GALC gene.
- An MRI of the head, which takes pictures of the brain.
- A nerve conduction test, which checks how well nerves carry signals.
- A test of the protein in spinal fluid.
Some states include Krabbe disease in newborn screening. This is a blood test done on babies soon after birth. A positive screen needs more testing to confirm the diagnosis.
Treatment
A stem cell transplant is the current standard treatment. Stem cells come from bone marrow or umbilical cord blood. The transplant works best when it is done before symptoms start. Babies diagnosed before 14 days old are candidates for early treatment. The transplant slows the disease but does not reverse it. It is usually not recommended for people who already have symptoms. It also has risks.
When a transplant is not possible or does not work, treatment focuses on symptoms and support. Several specialists, including physical and occupational therapists, may be needed. Gene therapy combined with a transplant is being studied in a clinical trial. Genetic counseling is recommended for families.
When to see a doctor
Contact your child's doctor if your child has symptoms of this disorder.
Go to the hospital emergency room or call 911 if your child has seizures, loses consciousness, or has abnormal posturing.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can help get a child to the right specialists quickly and coordinate care between them. They can also offer follow-up visits and help families find genetic counseling and support.
Common questions
Is Krabbe disease inherited?
Yes. It is passed down through families in an autosomal recessive pattern. Both parents carry a changed copy of the GALC gene, and each child then has a 1 in 4 chance of getting the disease.
Is there a treatment for Krabbe disease?
Yes, but options are limited. A stem cell transplant is the current standard treatment and works best before symptoms start. It slows the disease but does not reverse it. Other care is supportive.
Can Krabbe disease be found at birth?
Yes, in some states. Some newborn screening programs test for Krabbe disease. Babies diagnosed before 14 days old are candidates for early treatment with a stem cell transplant.
Is there more than one form of Krabbe disease?
Yes. The infantile form is the most common and usually begins before age 1. Late-onset forms begin in childhood, the teen years, or adulthood and tend to progress more slowly.
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Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
