Electron microscopic observations on cultured fibroblasts from Fabry heterozygotes and hemizygotes

The ultrastructure of cultured fibroblasts from 2 hemizygotes with Fabry's disease ad 8 heterozygotes was compared with that of normal cells. Lysosomal inclusions consisting of tightly packed, concentric lamellae were seen in all fibroblast lines carrying the Fabry gene, whether hemizygous or heterozygous, but not in normal fibroblasts. Most heterozygous, but not in normal fibroblasts. Most heterozygous fibroblasts have fewer lysosomal inclusions than the hemizygous cells. The morphology of the inclusions is similar to that seen in biopsy material. Among the heterozygotes no correlation was found between enzyme levels and fibroblast inclusions.