Variability of Expressivity of α-Fucosidase Deficiency
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Following its discovery by Durand, et al., (1966), fucosidosis has been defined as a grave disease of infancy and early childhood with premature death. This concept had to be modified when Patel, et al., (1972) observed hitherto unknown aspects of this enzyme defect, namely the occurrence of angiokeratoma corporis diffusum and extension of the lifespan into adulthood. Nevertheless, their patient also had severe mental retardation, was dwarfed, and exhibited gargoylian features.
KeywordsSevere Mental Retardation Enzyme Defect Lysosomal Accumulation Kidney Extract Lysosomal Disease
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