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July 1971

Ultrastructure of Cultured Fibroblasts in I-Cell Disease

Author Affiliations

La Jolla, Calif
From the Division of Neurometabolic Disorders, Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla.

Am J Dis Child. 1971;122(1):34-38. doi:10.1001/archpedi.1971.02110010070011

Cultivated skin fibroblasts from patients with I-cell disease and one patient's parents were investigated by light and electron microscopy. Abundant membrane-bound inclusions, apparently within lysosomes, were found in cultured skin fibroblasts obtained from both patients. Light and electron microscopy demonstrated that the inclusions were PAS positive, oil red O positive, metachromatic, and osmiophilic. The inclusions were comprised of multivesicular and pleomorphic membranes, as well as homogeneous electron dense and electron translucent material. Similar morphological abnormalities were noted occasionally in cells from the patient's father. These morphologic abnormalities, persisting after many cellular generations in vitro, appear to be characteristic features of the I-cell phenotype.