Defective brain energy metabolism shown by in vivo31P MR spectroscopy in 28 patients with mitochondrial cytopathies

Bruno Barbiroli, Pasquale Montagna, Paolo Martinelli, Raffaele Lodi, Stefano Iotti, Pietro Cortelli, Rosanna Funicello, Paolo Zaniol

Research output: Contribution to journalArticlepeer-review


We studied brain energy metabolism by phosphorus magnetic resonance spectroscopy (31P MRS) in 28 patients with mitochondrial cytopathies, and 20 normal control subjects. Fourteen patients had myopathy alone, six had only mild brain symptoms, and eight showed different degrees of brain involvement. Brain 31P MRS showed a low phosphocreatine content in all patients, accompanied by a high inorganic phosphate in 14 of 28 patients. The average value of the Pi concentration in the patient group was significantly (p = 0.009) different from the control group. The cytosolic pH was normal. From these data were derived a high concentration of ADP (calculated from the creatine kinase equilibrium), a high percent value of V/Vmax for ATP biosynthesis, and a low phosphorylation potential, all features showing a derangement of brain energy metabolism, in all patients with mitochondrial cytopathies. 31P MRS proved to be sensitive enough to disclose a deficit of mitochondrial functionality not only in the affected patients, but also in those without clinically evident brain symptoms.

Original languageEnglish
Pages (from-to)469-474
Number of pages6
JournalJournal of Cerebral Blood Flow and Metabolism
Issue number3
Publication statusPublished - 1993


  • Brain bioenergetics
  • Brain MR spectroscopy
  • Impaired brain energy metabolism
  • Mitochondrial cytopathies

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Neuroscience(all)


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