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