Muscle Phosphofructokinase Deficiency

Wayne E. Tobin, Frans Huijing, Robert S. Porro, Robert T. Salzman

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

The sixth case, to our knowledge, of phosphofructokinase deficiency is reported in a 20-year-old, otherwise healthy, man. The clinical presentation consisted of exercise intolerance, muscle pain, and elevated blood levels of muscle enzymes. The abnormality in the muscle was confirmed with electromyography, ischemic exercise testing, light microscopy with histochemistry, and electron microscopy. Biochemical determinations diagnosed the defect in phosphofructokinase activity.

Original languageEnglish (US)
Pages (from-to)128-130
Number of pages3
JournalArchives of neurology
Volume28
Issue number2
DOIs
StatePublished - Feb 1973

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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