Catalog

Glycogen storage disease due to muscle phosphofructokinase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to muscle phosphofructokinase deficiency – http://id.who.int/icd/entity/1985620430

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