caa a22 4500 465767192 CHVBK 20180323111917.0 cr unu---uuuuu 170327e19900101xx s 000 0 eng 10.1007/BF00308714 doi (NATIONALLICENCE)springer-10.1007/BF00308714 Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency [Elektronische Daten] [A. Bardosi, S. Eber, M. Hendrys, A. Pekrum] Summary: Morphological changes are shown in the muscle biopsy specimens of an 8-year-old girl who suffered from a triosephosphate isomerase (TPI) deficiency, resulting in a chronic, nonspherocytic, hemolytic anemia, mental retardation and neuromuscular impairment. The newly introduced enzyme histochemical reaction for TPI demonstrated a total lack of histochemically detectable enzyme activity, whereas biochemical analysis of muscle tissue revealed less than 10% of the normal enzyme activity. Electron microscopy showed a degenerative myopathy with an increase in the amount of intracellular glycogen. Additionally, mitochondrial changes within the muscle fibers were observed to be similar to those in mitochondrial myopathies. The disturbed balance between glycerinaldehyde phosphate and dihydroxy-acetone phosphate, due to the deficiency of the TPI enzyme, is interpreted as the biochemical background of an impaired electron transport across the mitochondrial membrane, resulting in the coexistence of an impaired glycolytic pathway and an impaired mitochondrial metabolism of muscle cells. Springer-Verlag, 1990 Triosephophosphate isomerase (TPI) nationallicence Mitochondrial myopathy nationallicence Muscle tissue nationallicence Electron microscopy nationallicence Enzyme histochemistry nationallicence Bardosi A. Abteilung für Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut Eber S. Abteilung für Pediatrie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut Hendrys M. Abteilung für Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut Pekrum A. Abteilung für Pediatrie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut Acta Neuropathologica Springer-Verlag 79/4(1990-01-01), 387-394 0001-6322 79:4<387 1990 79 401 https://doi.org/10.1007/BF00308714 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00308714 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bardosi A. Abteilung für Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut NATIONALLICENCE 700 1- Eber S. Abteilung für Pediatrie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut NATIONALLICENCE 700 1- Hendrys M. Abteilung für Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut NATIONALLICENCE 700 1- Pekrum A. Abteilung für Pediatrie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany aut NATIONALLICENCE 773 0- Acta Neuropathologica Springer-Verlag 79/4(1990-01-01), 387-394 0001-6322 79:4<387 1990 79 401 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer