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September 1974

Juvenile GM1 Gangliosidosis: Occurrence With Absence of Two β-Galactosidase Components

Author Affiliations
From the Research Institute (Drs. Lowden and Callahan) and the departments of pathology (Dr. Norman) and paediatrics (Drs. Thain and Prichard), the Hospital for Sick Children, Toronto.
Arch Neurol. 1974;31(3):200-203. doi:10.1001/archneur.1974.00490390082010

A 12-year-old girl with GM1 gangliosidosis had been well until 5 years of age when she first developed spasticity and slow progressive intellectual deterioration. When assayed with artificial substrates (p-nitrophenyl-β-galactoside and 4-methylumbelliferyl-β-galactoside), βgalactosidase activity was virtually absent in leukocytes, urinary protein, and cultured fibroblasts. Enzyme activity was also decreased when the natural substrates GM1 ganglioside (5% of control cells) and ceramide lactoside (24% of control cells) were used. Cerebroside βgalactosidase activity was in the high normal range. We propose a new nomenclature for the GM1 gangliosidoses in which this patient would be classified as having the juvenile O variant.