Abstract
Fucosidosis is an autosomal recessive lysosomal disorder resulting from the deficient activity of the enzyme alpha-L-fucosidase. The originally described cases were characterized clinically by progressive psychomotor retardation, severe neurologic signs, coarsening of facial features, variable skeletal abnormalities, and fatal outcome in childhood. Three cases of fucosidosis with a different clinical picture have been described. We are reporting two brothers, 4½ and 9 years old, affected by a variant form of fucosidosis indicating genetic heterogeneity of this storage disease. A marked deficiency of alpha-L-fucosidase was demonstrated in cultured skin fibroblasts of both patients (0.0 to 3.5 n moles of p-nitrocatechol/mg protein/hour). The enzymatic activity in the parents (32.0) was approximately 28% of the activity of control fibroblasts (111.2). This new form of fucosidosis (fucosidosis type 2) is characterized by angiokeratoma corporis diffusum, spondyloepiphyseal dysplasia, as well as a milder course of psychomotor retardation, milder neurologic findings, and a longer survival than the originally described cases of the disease. Because of similarities of type 2 fucosidosis with mucopolysaccharidosis and Fabry's disease, the differential diagnosis of these disorders should include alpha-L-fucosidase determination.
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Kousseff, B., Beratis, N., Danesino, C. et al. GENETIC HETEROGENEITY IN FUCOSIDOSIS. Pediatr Res 8, 390 (1974). https://doi.org/10.1203/00006450-197404000-00302
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DOI: https://doi.org/10.1203/00006450-197404000-00302