Sorted By Test Name - Mayo Medical Laboratories

FUCW
8814
molecules in the tissues and body fluids of fucosidosis patients. Although the disorder is pan ethnic, the
majority of reported patients have been from Italy and southwestern United States. To date, less than 80
patients have been reported in the literature. 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. A diagnostic work-up includes urine thin-layer
chromatography (OLIGO/84340 Oligosaccharide Screen, Urine) which may reveal the characteristic
banding pattern associated with fucosidosis. In addition, enzyme assay of alpha-L-fucosidosis can confirm
the diagnosis. Enzyme analysis should be pursued in cases with strong clinical suspicion regardless of the
urine screening result. Molecular (DNA) analysis is not currently available in the US.
Useful For: Detection of fucosidosis
Interpretation: Low alpha-fucosidase suggests fucosidosis when accompanied with clinical findings.
Some patients exhibit measurable activity minimally below the normal range. These patients are not likely
to have fucosidosis.
Reference Values:
1.30-3.60 U/g of cellular protein
Clinical References: 1. Cowan TM, Yu C: Laboratory investigations of inborn errors of metabolism.
In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS
Roth, New York, NY,McGraw-Hill Medical Division, 2009, pp 867-868 2. Enns GM, Steiner RD, Cowan
TM: Lysosomal disorders. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K
Sarafoglou, GF Hoffmann, KS Roth, New York, McGraw-Hill Medical Division, 2009, pp 747-748 3.
Thomas GH: Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis,
and sialidosis. In Scriver's The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID).
Edited by D Valle, et al, The McGraw-Hill Companies, Inc. Available from URL:
http://www.ommbid.com/OMMBID/a/c.html/lysosomal_disorders/disorders_glycoprotein_degradation_
mannosidosis_mannosidosis_fucosidosis_sialidosis/abstract 4. Barlow JJ, DiCioccio RA, Dillard PH, et
al: Frequency of an allele for low activity of alpha-L-fucosidase in sera: possible increase in epithelial
ovarian cancer patients. J Natl Cancer Inst 1981 Nov; 67(5):1005-1009
Alpha-Fucosidase, Leukocytes
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, glycoasparagines) present in
cells. Reduced or absent activity of this enzyme results in the abnormal accumulation of these undigested
molecules in the tissues and body fluids of fucosidosis patients. Although the disorder is panethnic, the
majority of reported patients have been from Italy and southwestern United States. To date, less than 80
patients have been reported in the literature. 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. A diagnostic workup includes urine thin-layer
chromatography (OLIGO/84340 Oligosaccharide Screen, Urine), which may reveal the characteristic
banding pattern associated with fucosidosis. In addition, enzyme assay of alpha-L-fucosidosis can confirm
the diagnosis. Unless fucosidosis is the only lysosomal storage disease being considered, fibroblasts are
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