Application of epithelial cells in culture to the biochemical studies of lysosomal hydrolase deficiencies.

Epithelial cells are readily obtained when the primary culture of skin fibroblasts is established. The major lysosomal hydrolase activities in normal epithelial cells are lower than those in normal fibroblasts. The primary deficiency of lysosomal enzymes can be detected both in epithelial cells and in cultured skin fibroblasts. However, epithelial cells of I-cell disease show only beta-galactosidase deficiency. This result indicates that epithelial cells have different biochemical properties from skin fibroblasts and they may be similar to those of visceral organs. Therefore, cultured epithelial cells seem to be useful for the studies on lysosomal hydrolase deficiencies.