glycogen storage disease 15
A metabolic disorder (OMIM:613507) characterised by weakness due to glycogen depletion in skeletal muscle, and cardiac arrhythmias, due to accumulation of abnormal storage material in the heart. Skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibres and mitochondrial proliferation.
Molecular pathology Defects of GYG1, which encodes glycogenin 1, a glycosyltransferase whose metabolic activity precedes that of glycogen synthase, cause glycogen storage disease 15.
Synonyms Glycogenin deficiency, GSD15