Genetic Test
The FUCA1 (Alpha-L-Fucosidase 1) gene encodes a lysosomal enzyme involved in the breakdown of glycoproteins and glycolipids.
This enzyme is essential for normal cellular degradation processes.
Mutations in the FUCA1 gene are associated with fucosidosis, a lysosomal storage disorder characterized by the accumulation of fucosylated compounds in cells.
This genetic test targets a specific FUCA1 mutation linked to fucosidosis.
Disease Description
Fucosidosis is a progressive lysosomal storage disorder caused by the accumulation of fucose-containing compounds within lysosomes.
The central nervous system is particularly affected by this buildup, leading to neurological dysfunction.
As the disease progresses, affected animals develop neurological symptoms, experience muscle wasting, and undergo rapid physical deterioration.
