Krabbe disease

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Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after Danish neurologist Knud Krabbe (1885–1961). It is caused by mutations in the GALC gene, which cause a deficiency of the enzyme galactosylceramidase. Most cases present in infancy and result in progressive neurologic deterioration and death before the age of two.

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