Mammalian Genetic Galactosylceramidase Deficiencies

Genetic deficiency of galactosylceramidase is known to occur in man (globoid cell leukodystrophy, Krabbe disease), sheep, dog and mouse (twitcher). As expected from the same underlying cause, the clinical, pathological and biochemical manifestations are fundamentally similar in all species. Since the human disease is rare and since ethical considerations severely restrict the nature of studies feasible with the human disease, these genetically authentic animal models provide invaluable tools for research on globoid cell leukodystrophy. On the other hand, manifestations of the disease are not identical in all species despite the same genetic cause. Such species differences must be carefully taken into consideration when experimental results on the animal models are extrapolated to the human disease.