Krabbe Disease Pronunciation
Krabbe Leukodystrophy Facts
Krabbe Disease Progression
Inherited: Autosomal Recessive Disorder
Genetic Abnormality but Appears Healthy
Doesn’t Produce Enzyme that Metabolites Toxins
Toxic Build-Up
Demyelination equals damaged nerve cells
Distorted Brain Messages
Disability & Death
Types of Krabbe Disease: phenotypes
Early-Infantile, Late-Infantile, Later-Onset, Adolescent & Adult Onset

In Krabbe disease, the enzyme galactocerebrosidase (GALC), which is essential for metabolizing several important compounds in the body, is deficient. Therefore, psychosine (and other substances) which should be broken down and naturally released from the body start to accumulate. This toxic build-up damages the central nervous system, particularly destroying the myelin sheath, which insulates the nerves. The destruction of the myelin sheath, called demyelination, impedes the conduction of nerve signals from the brain to the rest of the body. As the myelin degrades, it causes severe physical disabilities.