GLA and Nager acrofacial dysostosis: Although the diagnosis of AFD to be based on the evaluation of the activity of α-Gal-A and analysis of the GLA gene, the determination of biomarkers may be useful, namely in women with very high clinical suspicion and no mutations identified or presence of mutations of uncertain significance in GLA gene analysis and in men with residual enzyme activity (>5% of normal) and unidentified mutations or presence of mutations of uncertain significance [2].