Glycogen storage disease XV
Glycogen storage disease XV
Definition
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.
Also known as glycogen storage disease type 15, glycogen storage disease type XV, glycogen storage disease XV, glycogenosis type 15, glycogenosis type XV, glycogenosis with severe cardiomyopathy due to glycogenin deficiency, GSD type 15, GSD type XV, GSD with severe cardiomyopathy due to glycogenin deficiency — per MONDO