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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.

ORPHA:371

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

Summary

Epidemiology

About 100 cases have been reported worldwide.

Clinical description

Clinical signs are muscular exercise intolerance (more severe than in type 5; see this term). Compensated hemolysis (increased bilirubin and reticulocytes) and hyperuricemia are associated. A rapidly fatal infant form has also been observed in 6 families.

Etiology

The condition is caused by mutations in the PFKM gene (12q13) encoding the muscular isoenzyme of PFK, a key enzyme in the regulation of anaerobic glycolysis which has 3 isoenzymes (for the muscle, liver, and platelets).

Diagnostic methods

The diagnosis is based on biological findings, revealing increased amounts of abnormal glycogen and enzyme deficiency (1 to 33% residual activity) in a muscle biopsy, whereas activity in erythrocytes is over 50%.

Differential diagnosis

Differential diagnoses include the other forms of glycogen storage disease (see these terms).

Genetic counseling

The condition is autosomal recessive, although a few cases with pseudodominance or symptomatic heterozygous individuals have been found.

Management and treatment

The only treatment is to avoid intensive exercise. It should be noted that carbohydrates induce lower muscular performance (due to the decreased amounts of free fatty acids and ketone bodies).

Prognosis

Myoglobinuria may lead to renal failure.

Expert reviewer(s):  Dr Roseline FROISSART - Last update: September 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009) Greek (2009, pdf)

Detailed information

General public

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.