Muscle glucose-6-phosphhate dehydrogenase deficiency

N. Bresolin, L. Bet, M. Moggio, G. Meola, F. Fortunato, G. Comi, L. Adobbati, L. Geremia, S. Pittalis, G. Scarlato

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Abstract

Muscle glucose-6-phosphate dehydrogenase (G6PD) deficient is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, the elder showing moderate exercise tolerance. Histochemical and biochemical studies showed a lack of G6PD activity in muscle biopsy specimens as well as in erythrocytes. G6PD characterization in erythrocytes classified these mutant enzymes as Mediterranean variant in all the patients. The deficiency was confirmed in the patients' myotubes and skin fibroblasts, where residual activity was present. Electrophoretic studies in tissue culture extracts showed that the residual muscle enzyme migrated as a single electrophoretic band like normal human muscle G6PD.

Original languageEnglish
Pages (from-to)183-198
Number of pages16
JournalJournal of Neurology
Volume236
Issue number4
Publication statusPublished - 1989

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ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Bresolin, N., Bet, L., Moggio, M., Meola, G., Fortunato, F., Comi, G., Adobbati, L., Geremia, L., Pittalis, S., & Scarlato, G. (1989). Muscle glucose-6-phosphhate dehydrogenase deficiency. Journal of Neurology, 236(4), 183-198.