Preferred Label : Glycogen storage disease due to muscle phosphoglycerate mutase deficiency;
ICD-11 definition : Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised
by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the
muscle biopsy.;
ICD-11 synonym : Glycogen storage disease type 10; Di Mauro disease; GSD type 10; Glycogenosis type 10;
Origin ID : 357512951;
Automatic exact mappings (from CISMeF team)
Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised
by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the
muscle biopsy.
