Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

FUCW
8814
AGABS
89407
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 preferred since they provide a long-term source of all of the lysosomal
enzymes. 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 United States.
Useful For: Detection of fucosidosis
Interpretation: Low alpha-fucosidase suggests fucosidosis when accompanied with the clinical
findings discussed above. Occasionally, values below the normal range occur. Since significant activity
is present in those patients, these results do not suggest fucosidosis.
Reference Values:
0.49-1.76 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, 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 Basis
of Inherited Disease (OMMBID) Edited by D Valle et al, 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-Galactosidase, Blood Spot
Clinical Information: Fabry disease is an X-linked recessive lysosomal storage disorder resulting
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