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Occurrence With Absence of Two β-Galactosidase Components

J. Alexander Lowden, MD, PhD; John W. Callahan, PhD; Margaret G. Norman, MD, FRCP(C); Mary Thain, MD; John Stobo Prichard, MB, FRCP(C), FRCP(L)

Arch Neurol. 1974;31(3):200-203.

Abstract
A 12-year-old girl with G_M1 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 G_M1 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 G_M1 gangliosidoses in which this patient would be classified as having the juvenile O variant.

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.

Footnotes
Accepted for publication Jan 17, 1974.

Reprint requests to Research Institute, the Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G 1X8 (Dr. Lowden).

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