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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-12-2009
Symbol GSD7
Location 12q13.1
Name glycogen storage disease, type VII
Other name(s)
  • Tarui disease
  • muscle phosphofructokinase deficiency
  • Corresponding gene PFKM
    Other symbol(s) PFKM
    Main clinical features
  • classical form with muscle cramps with exertion and myoglobinuria with extreme exertion
  • severe infantile form, leading to death during childhood, onset in infancy with hypotonia, limb weakness, progressive myopathy and respiratory failure leading to death early in the childhood
  • also characterized by compensated hemolytic anemia due to reduction in the erythrocyte PFK activity, and by cardiac abnormalities, such as low voltage electrocardiogram, tachycardia, ventricular hypertrophy
  • systemic disorder, but not simply as a muscle glycogenosis
  • Genetic determination autosomal recessive
    Related entries including late onset muscle weakness in partial deficiency
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name phosphofructokinase, muscle type (PFKM)