title: Evaluation of patients with lactic acidosis using microphotometric mitochondrial enzyme assay in single muscle fibers.
abstract: Microphotometric enzyme assay in single muscle fibers was performed on two patients with lactic acidosis. Neither case showed ragged red fibers upon histochemical evaluation. Biochemical analysis of mitochondrial enzymes demonstrated low normal cytochrome c oxidase (COX) activity in Case 1 and deficient COX in Case 2. Quantitative single muscle fiber analysis in patients showed marked variation in COX activity in Case 1, reflecting mosaic distribution of fibers with near-normal COX activity and with defective COX activity. These data suggest that this microphotometric assay may be valuable for elucidating the significance of 'partial enzyme deficiency'. In addition, this assay method may be applied to needle biopsy specimens.
authors: Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine, Japan.
authors: H
authors: H
authors: Sugie
authors: Y
authors: Y
authors: Sugie
authors: M
authors: M
authors: Ito
authors: S
authors: S
authors: Tsurui
authors: K
authors: K
authors: Shimizu
authors: H
authors: H
authors: Nakajima
authors: T
authors: T
authors: Fukuda
authors: A
authors: A
authors: Ishikawa
authors: H
authors: H
authors: Sato
authors: K
authors: K
authors: Hirano
mesh_terms: D000140:Acidosis, Lactic / Q000201:enzymology / Q000473:pathology*; D000293:Adolescent; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology*; D018485:Muscle Fibers, Skeletal / Q000201:enzymology*; D010783:Photometry; D013385:Succinate Dehydrogenase / Q000172:deficiency / Q000378:metabolism
chemical_list: D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV