Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Krabbe disease


Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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; 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.[1][2][3]
Last updated: 7/6/2015

References

  1. David A Wenger, PhD. Krabbe Disease. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1238/#krabbe.Clinical_Description.
  2. David H Tegay, DO. Krabbe Disease. Medscape Reference. December 2014; http://emedicine.medscape.com/article/951722-overview.
  3. Robert P Cruse, DO. Krabbe disease. UpToDate. February 2014; Accessed 7/2/2015.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Krabbe disease. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • Galactocerebrosidase deficiency
  • Galactosylceramidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • GCL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.