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Krabbe Disease

Krabbe Disease. Bri Alston 2-22-13 Honors Psychology. Common and Scientific Name. Krabbe Disease. Globoid Cell leukodystrophy. Transmission. Genetic -Mutation of chromosome 14 -Lack the enzyme GALC -Without GALC, large globoid cells are formed -Leads to lack of myelin producing cells

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Krabbe Disease

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  1. Krabbe Disease Bri Alston 2-22-13 Honors Psychology

  2. Common and Scientific Name Krabbe Disease Globoid Cell leukodystrophy

  3. Transmission Genetic -Mutation of chromosome 14 -Lack the enzyme GALC -Without GALC, large globoid cells are formed -Leads to lack of myelin producing cells -Leads to lack of myelin -Developmental skills aren’t formed If there’s two parent carriers they have a: • 25% chance of having Krabbe disease • 50% chance to be a carrier

  4. Target Population Occurs everywhere, but one in every six people in a Druze community in northern Israel and two Moslem Arab villages near Jerusalem are carriers.

  5. Affect on CNS and PNS -Affects both the CNS and PNS -Breaks down myelin coating and degenerates all brain cells

  6. Symptoms • Weakness • Loss of motor skills • Vision/Hearing loss • Diminished mental abilities • Unexplained Fever • Irritability • Limb Stiffness • Seizures • Feeding difficulties • Vomiting

  7. Prognosis • Fatal before age 2 in infants • Fatal within a few years for children • Fatal within 2 – 7 years for adults

  8. Cure There is no cure, however bone marrow and umbilical cord blood stem cell transplants have been found to slow the disease progression

  9. Celebrities Hunter’s Hope Celebrity Classic is an event held since 1997 to support Jim Kelly’s son Hunter, with Krabbe disease. Dan Marino and Julius Erving attended.

  10. Organizations The National Institute of Neurological Disorders and Stroke (NINDS) and the National Institutes of Health (NIH) are researching for a cure and send support through grants to institutions across America.

  11. Sources NINDS Krabbe disease information page. (2011). In Pamphlet by: National Institute of Neurological Disorders and Stroke. National Institute of Neurological Disorders and Stroke. Stanley, A. (2005). Krabbe Disease. In B. Narins (Ed.), The Gale Encyclopedia of Genetic Disorders (2nd ed., Vol. 1, pp. 722-724). Detroit: Gale.

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