Catalog

Glycogen storage disease due to glycogenin deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to glycogenin deficiency – http://id.who.int/icd/entity/623301128

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

Parents