Krabbe Disease Overview
Learn About Krabbe Disease
Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy.
Globoid cell leukodystrophy; Galactocerebrosidase deficiency; Galactosylceramidase deficiency
A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase).
The body needs this enzyme to make myelin. Myelin surrounds and protects nerve fibers. Without this enzyme, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.
Krabbe disease can develop at various ages:
- Early-onset Krabbe disease appears in the first months of life. Most children with this form of the disease die before they reach age 2.
- Late-onset Krabbe disease begins in late childhood or early adolescence.
Krabbe disease is inherited, which means it is passed down through families. If both parents carry the nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. It is an autosomal recessive disorder.
This condition is very rare. It is most common among people of Scandinavian descent.
Symptoms of early-onset Krabbe disease are:
- Changing muscle tone from floppy to rigid
- Hearing loss that leads to deafness
- Failure to thrive
- Feeding difficulties
- Irritability and sensitivity to loud sounds
- Severe seizures (may begin at a very early age)
- Unexplained fevers
- Vision loss that leads to blindness
- Vomiting
With late onset Krabbe disease, vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may also occur.
There is no specific treatment for Krabbe disease.
Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.
Ambra Del Grosso practices in Pisa, Italy. Ms. Del Grosso is rated as an Elite expert by MediFind in the treatment of Krabbe Disease. Her top areas of expertise are Krabbe Disease, CACH Syndrome, Situs Inversus, and Dextrocardia.
Marco Cecchini practices in Pisa, Italy. Mr. Cecchini is rated as an Elite expert by MediFind in the treatment of Krabbe Disease. His top areas of expertise are Krabbe Disease, CACH Syndrome, Neuroblastoma, and Embryonal Tumor with Multilayered Rosettes.
Ilaria Tonazzini practices in Pisa, Italy. Ms. Tonazzini is rated as an Elite expert by MediFind in the treatment of Krabbe Disease. Her top areas of expertise are Krabbe Disease, CACH Syndrome, Angelman Syndrome, and Farber Lipogranulomatosis.
More information and support for people with Krabbe disease and their families can be found at:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leukodystrophy-krabbes/
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6844/krabbe-disease
- United Leukodystrophy Foundation -- ulf.org
The outcome is likely to be poor. On average, infants with early-onset Krabbe disease die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease.
This disease damages the central nervous system. It can cause:
- Blindness
- Deafness
- Severe problems with muscle tone
The disease is usually life-threatening.
Contact your provider if your child develops symptoms of this disorder. Go to the hospital emergency room or call 911 or the local emergency number if the following symptoms occur:
- Seizures
- Loss of consciousness
- Abnormal posturing
Genetic counseling is recommended for people with a family history of Krabbe disease who are considering having children.
A blood test can be done to see if you carry a non-working copy of the gene that causes Krabbe disease.
Prenatal tests (amniocentesis or chorionic villus sampling) can be done to test a developing baby for this condition.
Summary: The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of t...
Summary: The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). ...
Published Date: April 08, 2025
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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