Fabry Disease

Publication Date: July 1, 2013
Last Updated: March 14, 2022


Testing and Diagnosis

Fabry disease can be confirmed in males with deficiency of α‐gal A, most commonly measured in blood (leukocytes), and the presence of a disease causing mutation in the GLA gene located on Xq22.1. Although in the past low α‐gal A activity has been considered sufficient for diagnosis in males, the presence of a common pseudodeficiency allele, D313Y, that results in low plasma alpha‐gal A activity and slightly reduced leukocyte enzyme activity suggests that a diagnosis of Fabry disease should not be finalized until a disease causing GLA mutation is identified.



Fabry Disease

Authoring Organization