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 journalArticle

33 Citations (Scopus)

Abstract

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
Volume22
Issue number4
DOIs
Publication statusPublished - Apr 2012

Fingerprint

Glycogen Storage Disease Type VII
Myoglobinuria
Muscle Cramp
Hypertrophic Cardiomyopathy
Exercise
Hyperuricemia
Hemolytic Anemia
Myalgia
Muscle Weakness
Glycogen
Atrial Fibrillation
Molecular Biology
Phenotype
Mutation
Genes

Keywords

  • GSD VII
  • Metabolic myopathies
  • PFK deficiency
  • PFKM mutations

ASJC Scopus subject areas

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

Cite this

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). / Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M'hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio.

In: Neuromuscular Disorders, Vol. 22, No. 4, 04.2012, p. 325-330.

Research output: Contribution to journalArticle

Musumeci, O, Bruno, C, Mongini, T, Rodolico, C, Aguennouz, M, Barca, E, Amati, A, Cassandrini, D, Serlenga, L, Vita, G & Toscano, A 2012, 'Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)', Neuromuscular Disorders, vol. 22, no. 4, pp. 325-330. https://doi.org/10.1016/j.nmd.2011.10.022
Musumeci, Olimpia ; Bruno, Claudio ; Mongini, Tiziana ; Rodolico, Carmelo ; Aguennouz, M'hammed ; Barca, Emanuele ; Amati, Angela ; Cassandrini, Denise ; Serlenga, Luigi ; Vita, Giuseppe ; Toscano, Antonio. / Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). In: Neuromuscular Disorders. 2012 ; Vol. 22, No. 4. pp. 325-330.
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