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Krabbe disease

From SNPedia

Krabbe disease is an autosomal recessive degenerative disease affecting the myelin sheath which is often fatal. Krabbe disease is also known as globoid cell leukodystrophy, galactosylceramide lipidosis, galactosylceramide beta-galactosidase deficiency, galactocerebrosidase deficiency and GALC deficiency.Wikipedia

Krabbe disease is caused by mutations in the GALC gene located on chromosome 14, and there are both early-onset and adult-onset forms. In infants, the disease is generally fatal before age two. Patients with late-onset Krabbe disease tend to have a slower progression of the disease and live significantly longer. Krabbe disease occurs in about one in 100,000 births.Wikipedia