glycogen storage disease VII

Disease Overview

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.

Synonyms

• GSD 7
• GSD due to muscle phosphofructokinase deficiency
• GSD type 7
• GSD type VII
• GSD7
• GSDVII
• Glycogen Storage Disease Type 7
• PFKM glycogen storage disease
• Pfkm deficiency
• Tarui disease
• glycogen storage disease 7
• glycogen storage disease VII
• glycogen storage disease caused by mutation in PFKM
• glycogen storage disease due to muscle phosphofructokinase deficiency
• glycogen storage disease type 7
• glycogen storage disease type VII
• glycogen storage disease, type VII
• glycogenosis due to muscle phosphofructokinase deficiency
• glycogenosis type 7
• glycogenosis type VII
• muscle phosphofructokinase deficiency
• phosphofructokinase deficiency
• phosphofructokinase myopathy