Catalog

Glycogen storage disease due to phosphoglucomutase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to phosphoglucomutase deficiency – http://id.who.int/icd/entity/614045107

Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterised by recurrent cramps during exercise from the first years of life with .