Other Names for this Disease
- Galactocerebrosidase deficiency
- Galactosylceramidase deficiency
- Galactosylceramide beta-galactosidase deficiency
- GALC deficiency
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failure to thrive; slowed development; unexplained fevers; and progressive muscle weakness, hearing loss and vision loss. People affected by the late-onset forms may not develop symptoms until later in childhood, early adolescence or even into adulthood. Signs and symptoms of these forms are extremely variable but may include muscle weakness and rigidity; walking difficulties; vision loss; intellectual regression; and/or seizures. Krabbe disease is caused by changes (mutations) in the GALC gene and is inherited in an autosomal recessive manner. Treatment is generally based on the signs and symptoms present in each person; however, preliminary studies suggest that it may be beneficial to use hematopoietic stem cell transplantation (i.e. umbilical cord blood stem cells) as a treatment for patients with presymptomatic infantile Krabbe disease and older people with mild symptoms.Krabbe disease is an inherited condition that affects the nervous system. The signs and symptoms of the condition and the disease severity differ by type. Babies affected by early-onset (infantile) Krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability;
Last updated: 7/6/2015
- David A Wenger, PhD. Krabbe Disease. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1238/#krabbe.Clinical_Description.
- David H Tegay, DO. Krabbe Disease. Medscape Reference. December 2014; http://emedicine.medscape.com/article/951722-overview.
- Robert P Cruse, DO. Krabbe disease. UpToDate. February 2014; Accessed 7/2/2015.
- Genetics Home Reference (GHR) contains information on Krabbe disease. This website is maintained by the National Library of Medicine.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Krabbe disease. Click on the link to view a sample search on this topic.