The Abnormalities of β-Galactosidase in GM1-Gangliosidoses

Publisher Website
Google Scholar
Abstract
The activity of GM1 .beta.-galactosidase in the brain and liver of patients with GM1-gangliosidosis was assayed using GM1-ganglioside tritiated in the terminal galactose. In the cases of GM1-gangliosidosis Types 1 and 2A the activity was less than 0.5% of the control. In the liver of GM1-gangliosidosis Type 2B the activity was observed to be much higher than that of Types 1 and 2A. On Sephadex G-150 gel filtration, 3 active fractions (I, II and III) for 4-methylumbelliferyl .beta.-galactopyranoside (4 MU) and 2 active fractions (I and II) for GM1-ganglioside were obtained in the control liver. There was no active fraction for GM1-ganglioside in spite of the preserved fraction I for 4MU in the liver of GM1-gangliosidosis Type 1 or Type 2A. In any of the 3 cases fraction II for both 4MU and GM1-ganglioside was not detected.

This publication has 4 references indexed in Scilit: