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What is Krabbe Disease?

WHAT IS KRABBE DISEASE? Pronunciation: (Krahb-A) TOXIC BUILD-UP = DAMAGED NERVE CELLS = DISABILITY & DEATH FACTS NAMED AFTER: Knud H. Krabbe, a Danish neurologist who first diagnosed the condition in 1916 ALSO KNOWN AS: Globoid Cell Leukodystrophy or Galactosylceramide Lipidosis DISEASE CLASSIFICATION: Leukodystrophy and Lysosomal Storage Disorder INCIDENCE: 1 in every 100,000 live births DISEASE DEVELOPMEN Carrier Carrier Father Mother Non-Carries Carrien Carrier Child Affected Child Child Child GENETIC ABNORMALITY BUT SEEMS HEALTHY INHERITED Baby has a gene mutation that is not apparent at birth. Estimated 1 in every 150 people is a carrier of Krabbe Disease. "GALC" DOESN'T PRODUCE ENZYME THAT METABOLIZES TOXINS Deficient in galactocerebrosidase (GALC), an enzyme necessary to break down toxic substances in nerve tissue. HEALTHY MYELIN TOXIC BUILD-UP Psychosine, a destructive toxin, accumulates in the brain. DEMYELINATION: DAMAGED NERVE CELLS Psychosine destroys the myelin sheath which covers and ─░nsulates the nerves. DISTORTED BRAIN MESSAGES Demyelination inhibits the transmission of nerve impulses, hindering the brain's communication with the body. LOSS OF ABILITIES AND EVENTUAL DEATH As demyelination increases, disabilities increase. The brain becomes unable to control the body: Including motion, vision, speech, and critical-life functions. TYPES OF KRABBE DISEASE (PHENOTYPES)" 62% 10% 22% 5% Early-Infantile: 0-6 months old Late-infantile: Later-Onset: 13 months-10 years old Adolescent & Adult Onset: 7-12 months old ages 11+ Late Onet Phenotyoes at rante D e t worie-Wiegntr Copynaht 2012 datrie eursiogy Eyevie inc. www Conyright vthon's Legacy 2013 JUDSON'S LEGACY LEARN MORE ABOUT KRABBE DISEASE SYHPTOME, TREATHENT HESEARGH, AND JUDSON'S STORY AT JUDSONSLEGACY.ORG

What is Krabbe Disease?

shared by levasheff on Jan 22
1 comment
Understand the disease development, facts, and phenotypes for Krabbe leukodystrophy.


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