Krabbe disease

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Risk factors

By Mayo Clinic staff

Krabbe disease is caused by a defective gene that must be inherited from both parents. But, even if both parents have the defective gene, a child may not develop Krabbe disease.

If both parents are carriers of the defective gene for Krabbe disease, their offspring have a 25 percent risk of developing the disorder. If a child inherits the gene from only one parent, he or she will be a carrier but will never develop symptoms.

Krabbe disease occurs more often in people from Israel and from Sweden than in the population at large.

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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