Electron microscopy: a method for the diagnosis of inherited metabolic storage diseases. Electron microscopy in diagnosis.
In the diagnosis of inherited metabolic diseases, electron microscopy has become an important method complementary to clinical, histological and biochemical assays. The characteristic ultrastructure of stored material as well as the site of accumulation in the cell are shown in a number of metabolic disorders. The most prominent advantages of electron microscopical techniques as compared to alternative techniques are discussed. One of the advantages is the fact that ultrastructural investigation requires only tissue samples of very small size, and another that its results may be obtained within two days. Moreover, transmission electron microscopy permits new and promising analytical methods such as quantitative estimation of organellar changes (morphometry) and energy dispersive X-ray elemental analysis (EDX).
D000795:Fabry Disease / Q000473:pathology; D005733:Gangliosidoses / Q000473:pathology; D005776:Gaucher Disease / Q000473:pathology; D005953:Glycogen Storage Disease Type I / Q000473:pathology; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000473:pathology; D008099:Liver / Q000648:ultrastructure; D008247:Lysosomes / Q000648:ultrastructure; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology*; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000473:pathology; D013661:Tay-Sachs Disease / Q000473:pathology