Clinical Information

Fucosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent alpha-L-fucosidase enzyme activity. This enzyme is involved in degrading asparagine-linked, fucose-containing complex molecules (oligosaccharides and glycoasparagines) present in cells. Reduced or absent activity of this enzyme results in the abnormal accumulation of these molecules in the tissues and body fluids.

Severe and mild subgroups of fucosidosis, designated types I and II, have been described, although recent data suggests individual patients may represent a continuum within a wide spectrum of severity. The more severe type is characterized by infantile onset, rapid psychomotor regression, and severe neurologic deterioration. Additionally, dysostosis multiplex and elevated sweat sodium chloride are frequent findings. Death typically occurs within the first decade of life. Those with the milder phenotype express comparatively mild psychomotor and neurologic regression, radiologic signs of dysostosis multiplex, and skin lesions (angiokeratoma corporis diffusum). Normal sweat salinity, the presence of the skin lesions, and survival into adulthood most readily distinguish milder from more severe phenotypes. Fucosidosis is an autosomal recessive condition resulting from two biallelic pathogenic variants in the FUCA1 gene. Although the disorder is panethnic, the majority of reported patients with fucosidosis have been from Italy and southwestern United States. To date, about 100 cases have been reported worldwide.

An initial diagnostic workup includes a urine screening assay for several oligosaccharidosis (OLIGU / Oligosaccharide Screen, Random, Urine). If the screening assay is suggestive of fucosidosis, enzyme analysis of alpha-L-fucosidase can confirm the diagnosis.