Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease

The present study describes a method for the determination of α galactosidase A and B activities and the characterization of their kinetic and stability properties in tears from normal individuals, heterozygotes, and hemizygotes with Fabry disease. The ease of collection, the minimal preparation required, the relative stability compared to other tissue or fluid sources, the ability to freeze store the tear buffer solution prior to assay, and the capability for automated enzyme assays may make tears the enzyme source of choice for the reliable diagnosis and mass screening of patients and carriers for other inherited enzyme deficiency diseases.