Pyruvate-dehydrogenase complex in ataxic patients: Enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia

G. Uziel, E. Bottacchi, G. Moschen, P. Giovanardi-Rossi, G. Cardace, S. Di Donato

Research output: Contribution to journalArticle

Abstract

Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia. The activities obtained after extraction of PDHC by different methods were compared. Triton-X-100 extraction yielded enzyme activities 5 to 10 times greater than those obtained with the older methods. With this sensitive technique, PDHC activity was markedly deficient in fibroblasts from the patient with lactic acidosis and ataxia but it was normal in the fibroblasts from FA patients. Mg++activation of the PDHC in FA fibroblasts was normal.

Original languageEnglish
Pages (from-to)317-321
Number of pages5
JournalItalian Journal of Neurological Sciences
Volume3
Issue number4
DOIs
Publication statusPublished - Dec 1982

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Keywords

  • Friedreich ataxia
  • lactic acidosis
  • Pyruvate-dehydrogenase

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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