Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

Olimpia Musumeci, Claudio Bruno, Tiziana Mongini, Carmelo Rodolico, M'hammed Aguennouz, Emanuele Barca, Angela Amati, Denise Cassandrini, Luigi Serlenga, Giuseppe Vita, Antonio Toscano

Research output: Contribution to journalArticlepeer-review


Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. We studied five patients with PFKM deficiency coming from different Italian regions. All probands showed exercise intolerance, hyperCKemia, cramps and myoglobinuria. One patient had a mild hypertrophic cardiomyopathy. Biochemical studies revealed residual PFK activity ranging from 1 to 5%. Molecular genetic analysis identified four novel mutations in the PFKM gene. In our series of patients, clinical and laboratory features were similar in all but one patient, who had an unusual phenotype characterized by 25. years disease history, high CK levels, hypertrophic cardiomyopathy with paroxysmal atrial fibrillation without fixed muscle weakness.

Original languageEnglish
Pages (from-to)325-330
Number of pages6
JournalNeuromuscular Disorders
Issue number4
Publication statusPublished - Apr 2012


  • Metabolic myopathies
  • PFK deficiency
  • PFKM mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology


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