Inherited metabolic diseases involving GalCer

Krabbe’s globoid cell leukodystrophy is a rapidly progressive and invariably fatal disease of children. It is characterized by the presence of globoid cells (cells that have more than one nucleus) in demyelinated portions of the brain. The cause of Krabbe’s disease is a deficient activity of an enzyme called ‘galactocerebroside β-galactosidase’. This lysosomal enzyme normally cleaves GalCer to ceramide and galactose. This activity is essential for myelin metabolism.