Free
E-newsletter
Subscribe to Housecall
Our weekly general interest
e-newsletter keeps you up to date
on a wide variety of health topics.
Mayo Clinic Housecall
Stay up to date on the latest health information.
What you get
- Free weekly e-newsletter
- Mayo Clinic expertise
- Recipes, tools and other helpful information
- We do not share your e-mail address
Treatments and drugs
By Mayo Clinic staffThere's no specific, proven treatment for Krabbe disease, nor is there a cure. Krabbe disease treatment is designed primarily to ease symptoms and may include:
- Anticonvulsant medications to manage seizures
- Drugs to ease muscle spasticity and irritability, such as benzodiazepines
- Drugs that may reduce the incidence of reflux
Treating symptoms in some older children with less-severe forms of the disease may include:
- Physical therapy to minimize deterioration of muscle tone.
- Occupational therapy so your child may achieve as much independence as possible — for example, by learning such tasks as dressing, eating and brushing teeth on their own.
- Some research indicates possible benefits associated with the use of bone marrow transplantation or cord blood transfusion as treatments for Krabbe disease.
Bone marrow transplantation
Adult bone marrow — the sponge-like material present in bones — has been used to replace a child's own bone marrow in Krabbe disease. This procedure is called hematopoietic stem cell transplantation. It appears to provide benefits primarily to older children who have less-severe forms of the disease or to infants diagnosed at birth.
For other children — particularly infants who have already developed symptoms — this treatment hasn't been successful. It doesn't appear to halt or slow progression of the disease in babies, nor has it been effective in treating fetuses diagnosed with the disease before birth.
More research — including longer follow-up with more subjects — is needed to better assess the possible benefits of this treatment.
Cord blood transfusion
A transfusion of blood stem cells, obtained from the umbilical cord of unrelated donors, has reduced neurological symptoms in some infants with Krabbe disease.
In small studies, doctors have transfused healthy donor cells with normal enzyme (GALC) activity into babies with Krabbe disease who have not yet developed symptoms. This treatment has stimulated normal development of myelin in these babies. Babies treated before symptoms appeared seemed to maintain normal hearing and vision; however, there was subsequent deterioration in language expression and in motor skills, such as walking or picking up objects.
In the future, gene therapy could play a role in the treatment of Krabbe disease, by delivering a functional gene via a virus to the cells or tissue, replacing the abnormal gene that is responsible for the disorder.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed April 20, 2011.
- Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 20, 2011.
- Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. 2009;11:450.
- Ropper AH, et al. Inherited metabolic diseases of the nervous system. In: Ropper AH, et al. Adams and Victor's Principles of Neurology. 9th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
- Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 20, 2011.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Duffner PK, et al. Newborn screening for Krabbe disease: The New York state model. Pediatric Neurology. 2009;40:245.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine. 2010;12:539.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed April 20, 2011.
- Wenger DA. Krabbe disease. In: Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed April 20, 2011.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. May 3, 2011.
Find Mayo Clinic on