To confirm the diagnosis (based on Swansea's criteria), the patient must have at least 6 of the following symptoms: nausea, abdominal pain, polydipsia/polyuria, encephalopathy, hypoglycemia, hyperuricemia, leukocytosis, ascites, increased hepatic aminotransferase and bilirubin, ammonia increase, renal failure, coagulopathy (increased prothrombin time) and microvesicular steatosis in liver biopsy, metabolic acidosis, and pancreatitis [6]. The gene discussed is F2; the disease is Encephalopathy.