Fucosidosis: A Glycosphingolipidosis

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Abstract
To the Editor: Fucosidosis, a neurovisceral storage disease characterized by the absence in tissues of α-fucosidase activity and the accumulation of glycolipid material was first reported by Durand et al.1 , 2 in 1967. Loeb et al.3 confirmed these findings but did not determine the precise nature of the material accumulated. Fibroblasts cultured from this patient appeared normal with respect to their glycosphingolipid and mucopolysaccharide content but showed the characteristic α-fucosidase deficiency.3 We have recently examined a small liver biopsy from a fourth patient4 with this disease and have characterized the glycosphingolipid sufficiently to classify this disease as a glycosphingolipidosis.Glycosphingolipids were . . .