Krabbe disease (globoid cell leukodystrophy) is a progressive, autosomal recessive inherited disorder affecting peripheral and central nervous system. This disease is associated with mutation in GALC gene and its locus has been mapped to chromosome 14q31. GALC gene code lysosomal hydrolytic enzyme galactocerebroside β-galactosidase (galactosylceramidase) which is crucial for degradation of galactolipids mostly: galactosylsphingosine (psychosine) and galactosylceramide (a major sphingolipid in the white matter of the central nervous system). This enzyme activity is required for correct metabolism of myelin. Krabbe disease is unique among the lipid storage diseases because there is no increase of lipid in the brain except within specialized microglia/macrophage cells described as globoid cells. Typically, the disease occurs among infants (90-95%), but rarer late-onset forms also exist. The disease may be subdivided into four types: infantile form with onset within the first six months, child form presenting between 6 months and 3 years, juvenile form presenting between 3 and 10 years and the rarest adult form with onset after 10 years. The diagnosis of Krabbe disease is based on clinical findings and confirmation of galactocerebroside β-galactosidase deficiency. We have found two families: first with child-onset and second with adult-onset disease. To our knowledge, it is the first observation of patient with adult form of Krabbe disease in Poland. We suggest that the founder effect in Polish population took place during Swedish Deluge.

globoid cell leukodystrophy, Krabbe disease, galactocerebroside β-galactosidase, GALC, lateonset forms