Assays / Genetic Enzymes / Fucosidosis

This disease is rare, and is divided into two main forms: type 1 (infantile) where progressive psychomotor retardation is noticed in the first few months leading to early death, and type 2 (juvenile and adult), where onset is from 5 to 18 years. Patients with fucosidosis can have angiokeratoma corporis diffusum, and the diagnosis should be considered in any patient with this feature in whom Fabry disease has been excluded.

Enzyme Tests:
Deficiency of lysosomal a-fucosidase is the primary defect.

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