GLA and Nager acrofacial dysostosis: In individuals with AFD, mutations in the GLA gene result in the deficiency or absence of α-GalA enzyme activity, causing a progressive accumulation of Gb3 and its metabolite, globotriaosylsphingosine (Lyso-Gb3), in lysosomes in multiple cell types, including vascular endothelial cells, smooth muscle cells, and neurons [31].