Type I glycogen storage disease

Disorder of glycogen breakdown and gluconeogenesis, typically presenting in infancy with hypoglycemia, hyperlacticacidemia, hypertriglyceridemia, 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.

Type I glycogen storage disease (GSD I) is a disorder of glucose production. It presents during the first year of life, usually with symptomatic hypoglycemia when an infant's feeding interval is increased or normal feeding is disrupted by acute illness. Clinical features at presentation typically include hepatomegaly, hyperlacticacidemia, and hypertriglyceridemia. Neutropenia is characteristically seen in GSD type Ib. All content herein referring to type I GSD includes type Ia and type Ib unless stated otherwise.