Type I glycogen storage disease: Straight to the point of care

Type I glycogen storage disease is a disorder of glucose-6-phosphate breakdown, associated with impaired glycogenolysis and gluconeogenesis. It typically presents 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.

Definition
Type I glycogen storage disease (GSD I) is a disorder of endogenous glucose production. It usually presents during the first year of life, with symptomatic hypoglycaemia when an infant's feeding interval is increased or normal feeding is disrupted by acute illness. Clinical features at presentation typically include hepatomegaly, hyperlacticacidaemia, and hypertriglyceridaemia. Symptoms and signs due to neutropenia and neutrophil dysfunction are characteristically seen in GSD type Ib. All content herein referring to type I GSD includes type Ia and type Ib unless stated otherwise.