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Causes

By Mayo Clinic staff

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Illustration showing autosomal recessive inheritance pattern Autosomal recessive inheritance pattern

Krabbe disease is caused by a genetic defect that results in a deficiency in an enzyme called galactocerebrosidase (GALC). This enzyme is essential for the maintenance of myelin — a fatty substance that insulates your nerve fibers.

Doctors sometimes refer to Krabbe disease as globoid cell leukodystrophy. Globoid cells store molecules called galactolipids. Without GALC, galactolipids accumulate in the brain. Psychosine is a type of galactolipid, and it's the one suspected of causing the most damage in Krabbe disease. The damage occurs because when psychosine levels are high, the cells that produce myelin begin to self-destruct.

A child needs to inherit an abnormal gene from each parent to trigger the disorder. This inheritance pattern is called autosomal recessive. The gene for Krabbe disease is located on chromosome 14.

Risk factors Symptoms
References
  1. Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed April 20, 2011.
  2. Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 20, 2011.
  3. Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. 2009;11:450.
  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.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
  5. Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 20, 2011.
  6. Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
  7. Duffner PK, et al. Newborn screening for Krabbe disease: The New York state model. Pediatric Neurology. 2009;40:245.
  8. Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine. 2010;12:539.
  9. National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed April 20, 2011.
  10. Wenger DA. Krabbe disease. In: Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed April 20, 2011.
  11. Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. May 3, 2011.
DS00937 June 11, 2011

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