Krabbe disease

What causes Krabbe disease?

Krabbe disease is caused by changes (mutations) in the GALC gene. This gene provides instructions for making an enzyme called galactosylceramidase, which breaks down a certain type of fat that is primarily found in the brain and kidneys. Mutations in the GALC gene lead to reduced levels of the galactosylceramidase enzyme which can cause a build up of toxic fats in the cells of the brain and other tissues. This may result in the progressive loss of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease.

Last updated on 05-01-20

How is Krabbe disease diagnosed?

A diagnosis of Krabbe disease may be suspected based on the presence of characteristic signs and symptoms or in certain states of the United States, due to an abnormal newborn screen. Additional testing can then be ordered to confirm the diagnosis. This testing generally includes a blood test and/or skin biopsy to evaluate the levels of galactosylceramidase, the enzyme that is low in people with Krabbe disease. Genetic testing for changes (mutations) in the GALC gene can also confirm the diagnosis.

Last updated on 05-01-20

How is Krabbe disease inherited?

Krabbe disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with Krabbe disease?

The long-term outlook (prognosis) for people with Krabbe disease varies by type. Infantile Krabbe disease is generally fatal before age two. However, prognosis may be better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation.

People with later-onset Krabbe disease generally have a milder course of the disease. However, the progression of disease and lifespan reduction can vary significantly.

Last updated on 05-01-20

How might Krabbe disease be treated?

Unfortunately, there is no cure for Krabbe disease. However, preliminary studies suggest hematopoietic stem cell transplantation (i.e. umbilical cord blood stem cells) may be an effective treatment in affected babies who have not yet developed symptoms and in older people with mild symptoms. For example, there is evidence that this treatment may delay disease progression and improve survival and quality of life. Although both short-term and long- term benefits have been reported, the data comes primarily from small clinical trials; thus, additional research is needed to more clearly define the outcomes of this treatment.

When a diagnosis is made after a person has already developed symptoms, treatment is focused on the symptoms present and may include various medications, adaptive equipment and therapies - including physical, respiratory, occupational, and speech.

The advocacy organization, Hunter's Hope, offers a family resource guide that includes information on the supportive treatment of Krabbe disease as well as tips for caring for an affected child. Please click on the link to access this resource.

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: United Leukodystrophy Foundation (ULF) 224 North Second Street Suite 2
DeKalb, IL, 60115 , United States
Phone: 815-748-3211 Toll Free: 800-728-5483 Fax : 815-748-0844 Email: Url:
Name: Hunter's Hope Foundation 6368 West Quaker Street PO Box 643
Orchard Park, NY, 14127, United States
Phone: 716-667-1200 Toll Free: 877-984-4673 Fax : 716-667-1212 Email: Url:
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: Url:
Name: European Association against Leukodystrophy ELA 2, rue Mi-les-Vignes BP 61024 54521
Laxou Cedex
Email: Url:
N P S Bajaj, A Waldman, R Orrell et al. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging J Neurol Neurosurg Psychiatry. November 8, 2001; 72(5). 635-638. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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