Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency.
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 glycerin-aldehyde phosphate and dihydroxyacetone 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.
Bardosi
A
A
Abteilung für Neuropathologie, Universität Göttingen, Federal Republic of Germany.
Eber
S W
SW
Hendrys
M
M
Pekrun
A
A
D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002648:Child; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000201:enzymology; D008928:Mitochondria / Q000201:enzymology / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000201:enzymology* / Q000473:pathology; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D006003:Glycogen; D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase