Mitochondriális myopathiák/encephalomyopathiák specifikus enzymdiagnosztikája.

Translated title of the contribution: Specific enzyme diagnosis in mitochondrial myopathies and encephalomyopathies

A. László, B. Sümegi, I. Alkonyi, E. Horváth, L. Sztriha, A. Várkonyi, J. Zombori

Research output: Contribution to journalArticle

Abstract

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.

Original languageHungarian
Pages (from-to)747-750
Number of pages4
JournalOrvosi Hetilap
Volume135
Issue number14
Publication statusPublished - Apr 3 1994

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Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Electron Transport Complex IV
Transferases
Enzymes
Cytochrome-c Oxidase Deficiency
Dihydrolipoamide Dehydrogenase
Acetylcarnitine
Pyruvate Dehydrogenase Complex
Citrate (si)-Synthase
Malate Dehydrogenase
Carnitine
Muscular Diseases
L-Lactate Dehydrogenase
Muscles
Liver

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mitochondriális myopathiák/encephalomyopathiák specifikus enzymdiagnosztikája. / László, A.; Sümegi, B.; Alkonyi, I.; Horváth, E.; Sztriha, L.; Várkonyi, A.; Zombori, J.

In: Orvosi Hetilap, Vol. 135, No. 14, 03.04.1994, p. 747-750.

Research output: Contribution to journalArticle

László, A, Sümegi, B, Alkonyi, I, Horváth, E, Sztriha, L, Várkonyi, A & Zombori, J 1994, 'Mitochondriális myopathiák/encephalomyopathiák specifikus enzymdiagnosztikája.', Orvosi Hetilap, vol. 135, no. 14, pp. 747-750.
László, A. ; Sümegi, B. ; Alkonyi, I. ; Horváth, E. ; Sztriha, L. ; Várkonyi, A. ; Zombori, J. / Mitochondriális myopathiák/encephalomyopathiák specifikus enzymdiagnosztikája. In: Orvosi Hetilap. 1994 ; Vol. 135, No. 14. pp. 747-750.
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