glycogen storage disease type 15

(redirected from glycogenin deficiency)

glycogen storage disease type 15

A metabolic disorder (OMIM:613507) characterised by weakness due to glycogen depletion in skeletal muscle, and 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 type 15.
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