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