We studied ß-galactosidase in skin fibroblasts from patients with different forms of ß-galactosidase deficiency: adult GM1 gangliosidosis, type 1 GMl gangliosidosis, and Morquio B syndrome. Enzyme properties in the adult cases differed from the other disorders and also from normal controls. Genetic hybridization studies indicated that all three forms belong to the same complementation group. Therefore, the adult disorder must be due to a mutation of the structural gene for ß-galactosidase, which is allelic to the mutations in type 1 GM1 gangliosidosis and Morquio B syndrome.
All Science Journal Classification (ASJC) codes
- Clinical Neurology