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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)

• serum
  •      alanine aminotransferase
  •      triglyceride
  •      total alkaline phosphatase
  •      potassium
  •      cholesterol
  •      bilirubin
  •      aspartate aminotransferase
  •      uric acid
• urine
  •      acetone
• whole blood
  •      glycosylated hemoglobin
  •      pH

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: