Zusammenfassung
Die Beobachtung einer Glykogenose (Typus III A) bei einem 11 Jahre alten Jungen wurde biochemisch, elektronenmikroskopisch, cytotopochemisch und durch eine Reihe sog. Negativfärbungen durchgearbeitet. In Leber, Muskulatur und Leukocyten wurden starke Glykogenanhäufungen nachgewiesen. Das Leberglykogen war, sowohl in Schnittpräparaten als auch bei isolierter Untersuchung, von dem normalen Glykogen des gesunden Menschen deutlich verschieden. Sogenannte typische Rosetten wurden nur ganz ausnahmsweise gefunden. Dagegen fanden sich sog. kleine Rosetten, jeweils zusammengesetzt aus einigen wenigen Partikeln, vor allem aber monopartikuläre Granula. In der Muskulatur jedoch trat das Glykogen, wie auch beim gesunden Menschen, monopartikulär und granuliert auf.Biochemisch konnte die Diagnose einer Glykogenose des Typus III A eindeutig gestellt werden. Es haben sich keine Anzeichen dafür nachweisen lassen, daß ein sog. Fermentdefekt, etwa wie bei einer Glykogenose des Typus II, zugrunde lag.
Summary
A combined biochemical and ultrastructural study, including cytochemical and negative staining techniques, has been made of three tissues, liver, muscle and leucocytes, in a case of type III A glycogenosis.
The electron microscopic studies revealed an increased accumulation of glycogen in the liver, in the skeletal muscle and in the leucocytes.
The hepatic glycogen, either isolated or within the hepatocytes, is mostly represented in the form of monoparticulate granules and of rosettes with fewer component units, whereas the typical rosettes are rare. The isolated and intracellular glycogen of muscle cells appears composed of monoparticulate granules, as in normal muscle cells.
The biochemical studies confirm the diagnosis of type III A glycogenosis and seem to exclude the simultaneous occurrence of the enzymatic defect responsible for type II glycogenosis.
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This work was supported by Grant N. 115/815/1270 from the Consiglio Nazionale delle Ricerche, Comitato Biologia e Medicina. Italy.
Dr.Minio Paluello and Dr.Bruni are fellows of Consiglio Nazionale delle Ricerche.
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Paluello, F.M., Bruni, C.B. & Spiele, H. Type III a glycogenosis. Virchows Arch. path Anat. 343, 164–176 (1967). https://doi.org/10.1007/BF01429736
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DOI: https://doi.org/10.1007/BF01429736