Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features.
Electron microscopic studies were performed on cultured fibroblasts from patients with metachromatic leukodystrophy, Fabry's, Gaucher's, Niemann-Pick's (Type A and C), Sanfilippo's (Type A and B) disease, chondroitin-4-sulfate mucopolysaccharidosis, lipofuscinosis (Spielmeyer-Vogt's disease) and ceroid-lipofuscinosis (Batten's disease with curvilinear bodies). Specific cytoplasmic inclusions with a limiting membrane were identified in Fabry's disease, Niemann-Pick syndrome, chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo's Type B disease. In Fabry's disease, the lipid inclusions tended to form stacks of parallel and concentric membranes. In Niemann-Pick syndrome, the lipid inclusions were made of wavy, loosely packed membranes. In chondroitin-4-sulfate mucopolysaccharidosis and Sanfilippo B, the lysosomes were enlarged and contained a reticular matrix with little electron-dense material. No specific ultrastructural changes were observed in Gaucher's, Sanfilippo's (Type A) disease, metachromatic leukodystrophy (sulfatidosis) and Batten's disease.
D001706:Biopsy; D001921:Brain / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000473:pathology*; D002466:Cell Nucleolus; D002467:Cell Nucleus; D002478:Cells, Cultured; D003593:Cytoplasm; D004721:Endoplasmic Reticulum; D000795:Fabry Disease / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005776:Gaucher Disease / Q000473:pathology; D006056:Golgi Apparatus; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008099:Liver / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria; D009083:Mucopolysaccharidoses / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000473:pathology; D012270:Ribosomes; D012867:Skin / Q000473:pathology*