Krabbe's disease - Globoid cell leukodystrophy

Abstract

Krabbe's disease, globoid cell leukodystrophy, is a rare autosomal recessive demyelinating neurodegenerative disease caused by reduced activity of the lysosomal enzyme galactosylceramide β-galactosidase which is involved in myelin metabolism. More than 90% of cases are represented by the classical infantile form characterized by early onset, rapid progression and a relatively uniform clinical picture. In Denmark during 19791995 there were 14 enzymatically verified cases of this form (incidence 1:67.000) and two cases of the late onset form, which has a slower progression and a more varied clinical picture. A case of the late onset form is described. There is no cure for Krabbe's disease, but an early diagnosis is of great importance in order to prevent new cases by prenatal diagnosis in high-risk families.