Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β-Galactosidase*
Abstract
Profound deficiency of a specific enzyme, galactocerebroside β-galactosidase, has been demonstrated in the brains, liver, and spleen of three patients with Krabbe's globoid cell leucodystrophy. The activity of this enzyme was normal in a variety of other cerebral diseases, including those with similarly devasted white matter. The lack of enzyme activity was not due to an inhibitor in the tissue, nor is it due to a shift in the pH optimum. The deficiency of galactocerebroside β-galactosidase as the primary enzymatic defect can account for the morphological and biochemical characteristics of this disease better than the previously reported deficiency of cerebroside-sulfatide sulfotransferase.
Footnotes
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↵ † Requests for reprints may be addressed to Dr. K. Suzuki, Associate Professor of Neurology, University of Pennsylvania School of Medicine, 36th Street and Hamilton Walk, Philadelphia, Pa. 19104.
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↵ * This work was supported by research grants, NS-08420 and NS-08075, from the U.S. Public Health Service, and the Inex J. Warriner Memorial Grant for Research on Multiple Sclerosis (670-A-1) from the National Multiple Sclerosis Society.
