Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species.

Abstract

Globoid cell leukodystrophy (Krabbe disease) in man is a rare genetic disorder caused by deficiency of galactosylceramidase activity. Clinical and pathological manifestations are almost exclusively confined to the nervous system, particularly to the white matter and the peripheral nerve. The disease also occurs in four other mammalian species: dog, cat, sheep and mouse. Except for the feline disease, for which enzymatic information is lacking, these animal models are genetically equivalent to the human disease. The clinical and pathological features are fundamentally similar in all species, as might be expected from the same underlying genetic defect. Nevertheless, significant species differences are observed in the clinical course, severity of pathological alterations, and analytical biochemistry. These genetically "authentic" animal models provide an invaluable tool for studies of the rare human genetic disorder. Results of studies already done and the future potentials are discussed.