[Specific enzyme diagnosis in mitochondrial myopathies and encephalomyopathies].
Mitochondrial enzyme activities (cytochrome c-oxidase = COX, carnitine acyl-transferase = CAT, citrate synthase = CS, lipoamide dehydrogenase = lipDH from the pyruvate-dehydrogenase complex, lactate dehydrogenase = LDH, and malate-dehydrogenase = MDH) were measured from progressive myopathy/encephalomyopathy. Cytochrome oxidase (COX) deficiency was detected from muscle or liver tissues, adult type of COX defectus had been diagnosed in 1 case and infantile type in further 6 cases. The 3 familial atactic children showed decreased activity of carnitine acetyl-transferase, too.
László
A
A
Szent-Györgyi Albert Orvostudományi Egyetem, Gyermekklinika, Szeged.
Sümegi
B
B
Alkonyi
I
I
Horváth
E
E
Sztriha
L
L
Várkonyi
A
A
Zombori
J
J
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D003576:Electron Transport Complex IV / Q000097:blood; D006801:Humans; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008099:Liver / Q000201:enzymology; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000201:enzymology*; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000201:enzymology*; D009132:Muscles / Q000201:enzymology; D011768:Pyruvate Dehydrogenase Complex / Q000097:blood
D011768:Pyruvate Dehydrogenase Complex; D007770:L-Lactate Dehydrogenase; D003576:Electron Transport Complex IV
Mitochondriális myopathiák/encephalomyopathiák specifikus enzymdiagnosztikája.