Glycogen storage disease due to muscle phosphofructokinase deficiency
What is Glycogen storage disease due to muscle phosphofructokinase deficiency?
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.
Other condition names
- 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
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
- Childhood
- Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.