Reviewed March 2007
What is Krabbe disease?
Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.
The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures.
Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.
How common is Krabbe disease?
In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.
What genes are related to Krabbe disease?
Mutations in the GALC gene cause Krabbe disease.
Mutations in the GALC gene cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease.
How do people inherit Krabbe disease?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about treatment for Krabbe disease?
You may find information on treatment or management of Krabbe disease or some of its symptoms in the links below, particularly the links for
Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.
Where can I find additional information about Krabbe disease?
You may find the following resources about Krabbe disease helpful. These materials are written for the general public.
- MedlinePlus - Health information
- Encyclopedia: Krabbe disease (http://www.nlm.nih.gov/medlineplus/ency/article/001198.htm)
- Health Topic: Leukodystrophies (http://www.nlm.nih.gov/medlineplus/leukodystrophies.html)
- Health Topic: Newborn Screening (http://www.nlm.nih.gov/medlineplus/newbornscreening.html)
- Additional NIH Resources - National Institutes of Health
- National Institute of Neurological Disorders and Stroke: Krabbe Disease (http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm)
- National Institute of Neurological Disorders and Stroke: Leukodystrophy (http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm)
- National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases (http://www.ninds.nih.gov/disorders/lipid_storage_diseases/detail_lipid_storage_diseases.htm)
- Educational resources - Information pages
- Ask the Geneticist: Risk of carrying a GALC mutation (http://www.askthegen.org/question.php?question_id=1423)
- Ask the Geneticist: Treatment of Krabbe disease (http://www.askthegen.org/question.php?question_id=1713)
- Institute of Child Health (UK): Krabbe's leucodystrophy (infantile form) (http://www.gosh.nhs.uk/gosh_families/information_sheets/krabbes_leucodystophy_infantile/krabbes_leucodystophy_infantile_families.html)
- Institute of Child Health (UK): Krabbe's leucodystrophy (late-onset) (http://www.gosh.nhs.uk/gosh_families/information_sheets/krabbes_leucodystrophy_late_onset/krabbes_leucodystrophy_late_onset_families.html)
- Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,55/)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=487)
- Tulane University (http://www.tnprc.tulane.edu/public_krabbe.html)
- University of Oklahoma Health Sciences Center (http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF5IE02.htm)
- Patient support - For patients and families
- Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk)
- Family Village (http://www.familyvillage.wisc.edu/lib_leukodystrophy.html)
- Hunter's Hope (http://www.huntershope.org/)
- National Organization for Rare Disorders (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Leukodystrophy,+Krabbe's)
- United Leukodystrophy Foundation (http://www.ulf.org/types/krabbe.html)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for Krabbe disease?
- Diffuse Globoid Body Sclerosis
- Galactosylceramidase Deficiency Disease
- Galactosylceramide lipidosis
- galactosylcerebrosidase deficiency
- galactosylsphingosine lipidosis
- GALC deficiency
- GCL
- GLD
- psychosine lipidosis
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What if I still have specific questions about Krabbe disease?
- See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
- Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
- Submit your question to Ask the Geneticist (http://www.askthegen.org/).
What glossary definitions help with understanding Krabbe disease?
autosomal ;
autosomal recessive ;
cell ;
deficiency ;
degenerative ;
degenerative disorder ;
demyelination ;
enzyme ;
fever ;
galactosylceramides ;
galactosylsphingosine ;
gene ;
incidence ;
infection ;
leukodystrophy ;
mutation ;
nerve cell ;
nervous system ;
newborn screening ;
nucleus ;
psychosine ;
recessive ;
sclerosis ;
screening ;
seizure ;
sign ;
symptom
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary (http://ghr.nlm.nih.gov/glossary).
References
- Gene Review: Krabbe Disease (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe)
- National Institute of Neurological Disorders and Stroke: Krabbe Disease (http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm)
- Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 2003 Sep;18(9):595-603. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14572137)
- Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E. Krabbe disease: genetic aspects and progress toward therapy. Mol Genet Metab. 2000 May;70(1):1-9. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10833326)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
Indicates a page outside Genetics Home Reference.