Sorted By Test Name - Mayo Medical Laboratories

AGABS
89407
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
from deficient activity of the enzyme alpha-galactosidase A (a-Gal A) and the subsequent deposition of
glycosylsphingolipids in tissues throughout the body, in particular, the kidney, heart, and brain. More than
150 mutations in the GLA gene have been identified in individuals diagnosed with Fabry disease. Severity
and onset of symptoms are dependent on the amount of residual enzyme activity. The classic form of
Fabry disease occurs in males with