Krabbe disease

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Prevention

By Mayo Clinic staff

Prepregnancy screening
If you or your spouse are known to be carriers of the gene abnormality responsible for Krabbe disease — or have extended family members who have developed the disorder — talk with your doctor about undergoing genetic counseling if you're considering pregnancy, in order to better understand the possible risks.

Newborn screening
Because stem cell transplants may delay the onset of Krabbe disease when given before symptoms begin, screening newborns may become more important. New York State has already adopted universal newborn screening for Krabbe disease and Illinois plans to do so by 2010. Even when transplant isn't feasible, screenings allow for early detection, which can help improve an infant's quality of life by intervening with supportive care earlier. If you don't live in a state where screening is commonplace and you have a family history of Krabbe disease, talk with your doctor about having your newborn screened.

References
  1. Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=krabbedisease. Accessed April 15, 2009.
  2. Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 15, 2009.
  3. Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. In Press. Accessed April 15, 2009.
  4. 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.: McGraw-Hill Medical; 2009. http://www.accessmedicine.com/content.aspx?aID=3636356. Accessed April 15, 2009.
  5. Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 15, 2009.
  6. Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain and Development. In Press. Accessed April 15, 2009.
  7. Korn-Lubetzki I, et al. Infantile Krabbe disease. Archives of Neurology. 2003;60:1643.
  8. Husain AM. Krabbe disease: Neurophysiologic studies and MRI correlations. Neurology. 2004;63:617.
  9. Escolar ML, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. New England Journal of Medicine. 2005;352:2069.
  10. Duffner PK, et al. Newborn screening for Krabbe disease: The New York State model. Pediatric Neurology. 2009;40:245.

DS00937

June 12, 2009

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