Mahvash disease (MVAH) is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic alpha cell hyperplasia. It has been reported that biallelic inactivating mutations in GCGR gene cause this disease. GCGR encodes the glucagon receptor, a G-protein-coupled receptor expressed mainly in the liver and kidney. Upon glucagon binding, it activates the stimulatory G protein (Gs) and increases cAMP level, subsequently transducing glucagon signaling involved in glucose, amino acids and lipid metabolism.
