요약

• Disorder of glycogen breakdown and gluconeogenesis, typically presenting in infancy with hypoglycaemia, hyperlacticacidaemia, hypertriglyceridaemia, and hepatomegaly.
• Provision of a continuous glucose source is the mainstay of treatment, often in the form of frequent feeding with uncooked cornstarch.
• Long-term sequelae include hepatic adenomas, hepatocellular carcinoma, and nephropathy.