Glycogen storage disease type I

Glycogen storage disease type I is an inherited metabolic disorder in which impaired glucose-6-phosphate processing limits glucose production and causes glycogen and fat to accumulate, especially in the liver and kidneys.

Glucose-6-phosphatase: An enzyme that removes phosphate from glucose-6-phosphate, allowing free glucose to leave cells. Its deficiency causes type Ia by blocking the final step of glucose release.
Glycogen storage disease: A group of inherited disorders that disrupt glycogen synthesis or breakdown. Type I is one form within this broader family of metabolic diseases.
Cornstarch therapy: A treatment that uses slowly digested uncooked cornstarch to provide sustained glucose. Regular doses help maintain blood glucose between meals and overnight.
Glycogen storage disease type III: An inherited glycogen disorder caused by deficiency of the glycogen debranching enzyme. Unlike type I, it usually preserves the final glucose-release step.
Glucose-6-phosphate transporter: A protein that transports glucose-6-phosphate into the endoplasmic reticulum for processing. Its deficiency causes type Ib, disrupting the same glucose-producing pathway.
Glycogen storage disease type Ia: The common type I subtype caused by deficiency of glucose-6-phosphatase. It accounts for most cases and identifies the enzyme-deficient form.
Continuous glucose monitoring: A method that measures interstitial glucose repeatedly using a wearable sensor. It can reveal overnight or between-meal glucose drops that need treatment adjustments.
Glycogen storage disease type VI: An inherited disorder caused by deficiency of liver glycogen phosphorylase. Its impaired glycogen breakdown is generally milder than the glucose-production block in type I.
Gluconeogenesis: The metabolic pathway that produces glucose from non-carbohydrate precursors. The enzyme defect blocks gluconeogenesis at its final step.
Glycogen storage disease type Ib: A type I subtype caused by deficiency of the glucose-6-phosphate transporter. It shares the metabolic defect and adds characteristic immune complications.

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