Sorted By Test Name - Mayo Medical Laboratories

AGAS
8784
> or =23.1 nmol/hour/mg protein
An interpretative report will be provided.
Note: Results from this assay do not reflect carrier status because of individual variation of
alpha-galactosidase enzyme levels.
Clinical References: 1. Desnick RJ, Ioannou YA, Eng CM: a-Galactosidase A deficiency: Fabry
disease. In The Metabolic Basis of Inherited Disease. Vol. 2. 7th edition. Edited by CR Scriver, AL
Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 1995, pp 2741-2784 2. De
Schoenmakere G, Poppe B, Wuyts B, et al: Two-tier approach for the detection of alpha-galactosidase A
deficiency in kidney transplant recipients. Nephrol Dial Transplant 2008;23:4044-4048 3. Spada M,
Pagliardini S, Yasuda M, et al: High incidence of later-onset Fabry disease revealed by newborn
screening. Am J Hum Genet 2006;79:31-40 4. Mehta A, Hughes DA: Fabry Disease. GeneReviews.
Edited by RA Pagon, TD Bird, CR Dolan, et al: University of Washington, Seattle. Last updated March
2011
Alpha-Galactosidase, Serum
Clinical Information: Fabry disease is an X-linked recessive lysosomal storage disorder resulting
from deficient activity of the enzyme alpha-galactosidase A (alpha-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