These clinical manifestations were closely associated hypocalcemia, hypophosphatemia, hypomagnesemia, hypernatremia, hypokalemia, hypoferremia, and hypozincemia, hypoglycemia, decreased level of reduced glutathione (GSH) alongside elevation in serum creatine kinase (CK) and aspartate aminotransferase (AST) activities, malondialdehyde (MDA), circulating insulin (INS) and parathyroid hormone (PTH) concentrations. The gene discussed is INS; the disease is hypophosphatemia.