title: [Contribution of electron microscopy of cultures of fibroblasts in the diagnosis of hereditary metabolic diseases].
abstract: This work is an electron microscopic study of fibroblast culture of patients with metabolic diseases. In all cases, except for Niemann-Pick disease, primary lysosomes or secondary lysosomes containing lamellar, rectilinear or curvilinear material are accumulated in cytoplasm of fibroblasts. Though clinical consequences of metabolic diseases are diverse, cellular injuries are relatively uniform. Then electron microscopic study would'nt allow the diagnostic of a metabolic disease but it can provide an orientation. In one case, the enzymatic defect is not determined with biochemical analyses though clinical observation is characteristic of a metabolic disease; only the electron microscopic study shows a lysosomal accumulation.
mesh_terms: D000293:Adolescent; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology*; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure
vernacular_title: Apport de la microscopie électronique de cultures de fibroblastes au diagnostic de maladies métaboliques héréditaires.