Catalog

Glycogen storage disease due to muscle phosphoglycerate mutase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to muscle phosphoglycerate mutase deficiency – http://id.who.int/icd/entity/357512951

Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy.