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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
AGL deficiency

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Description

Type III glycogen storage disease, also known as Cori's disease or Forbes disease, is a rare inherited disorder caused by a deficiency of the enzyme glycogen debranching enzyme (GDE). This enzyme is responsible for breaking down glycogen, a form of sugar stored in the body, into glucose, which is used for energy. Without GDE, glycogen accumulates in the liver, muscles, and other tissues, leading to a variety of symptoms. These can include muscle weakness, fatigue, poor growth, and liver and kidney problems. Treatment typically involves dietary changes and medications to help manage symptoms.

Synonyms
  • amylo-1-6-glucosidase deficiency
  • Cori disease
  • debrancher deficiency
  • debranching enzyme deficiency
  • Forbes disease
  • GDE deficiency
  • glycogen debrancher deficiency
  • glycogen debranching enzyme deficiency
  • GSD3
  • GSD III
  • limit dextrinosis
  • Type III glycogen storage disease
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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