Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Glycogen storage disease due to muscle phosphofructokinase deficiency

Disease definition

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


Classification level: Disorder
  • Synonym(s):
    • GSD due to muscle phosphofructokinase deficiency
    • GSD type 7
    • GSD type VII
    • Glycogen storage disease type 7
    • Glycogen storage disease type VII
    • Glycogenosis due to muscle phosphofructokinase deficiency
    • Glycogenosis type 7
    • Glycogenosis type VII
    • Tarui disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Adolescent, Adult, Childhood
  • ICD-10: E74.0
  • ICD-11: 5C51.3
  • OMIM: 232800
  • UMLS: C0017926
  • MeSH: D006014
  • GARD: 5686
  • MedDRA: 10053241

Detailed information

General public


Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.