Muscle glucose-6-phosphate dehydrogenase deficiency

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

Research output: Contribution to journalArticlepeer-review

Abstract

Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency 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 intolerance. 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)193-198
Number of pages6
JournalJournal of Neurology
Volume236
Issue number4
DOIs
Publication statusPublished - May 1989

Keywords

  • Glucose-6-phosphate dehydrogenase
  • Myoglobinuria
  • Myopathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Muscle glucose-6-phosphate dehydrogenase deficiency'. Together they form a unique fingerprint.

Cite this