Krabbe disease: A progressive degenerative disorder of the nervous system due to mutation in the galactosylceramidase (GALC) gene, leading to the accumulation of galactocerebroside and destruction of myelin, a fatty material that surrounds and insulates nerves. (Galactocerebroside is a component of myelin.)

Most (85-90%) patients with Krabbe disease have the infantile form. During the first few months of life they seem normal but extreme irritability, spasticity, and developmental delay become evident before 6 months of age. Neurological deterioration leads to death (on the average at 13 months of age). The balance (10-15%) of patients with Krabbe disease have a later onset of symptoms with slower progression of the disease. The onset may be any time after 6 months up into the 5th decade of life. They are normal until the symptoms of weakness and loss of vision and intellectual capacities become apparent. Their clinical course is variable.

Krabbe disease is inherited in an autosomal recessive manner. Couples with an affected child with each pregnancy have a 25% chance of an affected child, a 50% chance of a healthy child who is a carrier, and a 25% chance of a healthy child who is not a carrier. Krabbe disease is diagnosed by finding with 5% or less of normal GALC activity. Carrier testing is currently not reliable. Prenatal diagnosis is feasible. The disease is named for the Danish neurologist Knud Haraldsen Krabbe (1885-1965) who described it in 1913-16. The disease is also known as galactocerebrosidase deficiency, GALC deficiency, GLD, and globoid cell leukodystrophy.

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