Sphingolipid β-D-galactosidases in globoid cell leukodystrophy (Krabbe disease)

In the present study we have confirmed the deficiency of galactosylceramide β-galactosidase in the liver and brain of a Krabbe patient using tritium-labeled ³H-galactosylceramide. In gel filtration profiles, significant differences were observed between the elution patterns of the normal and Krabbe liver enzyme. The enzyme peak responsible for the catabolism of galactosylceramide was missing in the liver of the Krabbe patient. However, the isoelectric focusing profile of the enzyme from the brain and the liver was found to be only slightly different in Krabbe disease as compared to normals. Also the kinetic properties, thermostability, and substrate specificity of the three components of β-galactosidase separated from normal liver by gel filtration have been studied.