Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

Gabriele Siciliano, Bruno Rossi, Antonio Martini, Corrado Angelini, Andrea Martinuzzi, Raffaele Lodi, Paolo Zaniol, Bruno Barbiroli, Alberto Muratorio

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We report here a glycogen storage myopathy type V associated with multifocal encephalopathy. The patient, a 43-year-old male with increased serum CK, a heavy drinker and smoker, had been affected by generalized epilepsy since age 24, after a cranial injury. He had had a right hemiparesis 2 years before coming to our observation and a transient left hemiparesis the following year. CT and MRI of the brain showed multiple hemispheric lesions consistent with an ischemic process, as suggested by single photon emission tomography of the brain. Muscle biopsy showed a vacuolar myopathy, and myophosphorylase activity was 13% of the normal mean. Phosphorus magnetic resonance spectroscopy (31P-MRS) performed on resting calf muscles showed increased PCr to ATP and decreased PCr to Pi ratios. During both aerobic and ischemic exercise 31P-MRS failed to show any cytosolic acidification and phosphomonoesters (PME) accumulation, two MRS findings in agreement with McArdle's syndrome diagnosis. Mitochondrial respiration was also affected as shown by a low PCr to Pi ratio at rest and by a low rate of PCr re-synthesis during recovery from aerobic exercise. This latter finding in McArdle's disease can be explained by decreased mitochondrial substrate availability, which in turn can contribute to the phenotypic manifestations of the disease.

Original languageEnglish
Pages (from-to)84-91
Number of pages8
JournalJournal of the Neurological Sciences
Issue number1
Publication statusPublished - 1995



  • Encephalomalacia
  • Energy metabolism
  • Glycogen storage disease, type V
  • Glycolysis
  • McArdle's disease
  • Nuclear magnetic resonance spectroscopy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Ageing
  • Surgery
  • Developmental Neuroscience
  • Neuroscience(all)

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