Cori disease, also known as glycogen storage disease type III, is caused by a deficiency in the glycogen debranching enzyme.
Understanding Cori Disease
Cori disease, or glycogen storage disease type III, is a genetic disorder that affects how the body processes glycogen. Glycogen is the stored form of glucose, which provides energy. In individuals with Cori disease, the body has difficulty breaking down glycogen due to a deficiency in a specific enzyme.
The Role of the Glycogen Debranching Enzyme
The glycogen debranching enzyme plays a crucial role in the conversion of glycogen into glucose. This enzyme is responsible for breaking down the branches in glycogen molecules, allowing for the release of glucose. When this enzyme is deficient or malfunctions, glycogen accumulates in the body, particularly in the liver and muscles, leading to the symptoms of Cori disease.
Consequences of Enzyme Deficiency
The buildup of glycogen can cause various health issues, including:
- Hepatomegaly: Enlargement of the liver.
- Hypoglycemia: Low blood sugar levels.
- Muscle weakness: Due to glycogen buildup in muscle tissue.
- Growth delays: Particularly in childhood.
Summary of Cori Disease
| Feature | Description |
|---|---|
| Disease Name | Cori disease (Glycogen Storage Disease Type III) |
| Primary Defect | Deficiency of the glycogen debranching enzyme |
| Effect on Glycogen | Accumulation of glycogen in the liver and muscles |
| Main Symptoms | Hepatomegaly, hypoglycemia, muscle weakness, and growth delays |
In conclusion, Cori disease results from a deficiency in the glycogen debranching enzyme, which prevents the proper breakdown of glycogen and leads to its toxic accumulation in the body.
