Deregulation of the mTOR pathway is associated with several metabolic and degenerative human diseases, including cancer; moreover, recent evidence shows that both high (i.e., cancer and neurological diseases) and low (i.e., atrophy of the muscle in certain situations and aging) levels of mTOR activity are implicated in different physiological and pathological processes. The gene discussed is MTOR; the disease is glycogen storage disease VI.