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Other glycogen storage disease Save

ICD-10 code: E74.09

Disease category: E74.0: Glycogen storage disease

What is Other Glycogen Storage Disease?

Other Glycogen Storage Disease (OGSD) is a rare genetic disorder that affects the storage and release of glycogen in the body. Glycogen is a complex carbohydrate that serves as a primary source of energy in the body. In people with OGSD, the body is unable to store or release glycogen properly, which can lead to a variety of health problems.

Types of Other Glycogen Storage Disease

There are several types of OGSD, each of which is caused by a different genetic mutation. These include:

  1. Phosphorylase Kinase Deficiency: This type of OGSD affects the enzyme that regulates the breakdown of glycogen. Symptoms can include low blood sugar, muscle weakness, and liver enlargement.
  2. Phosphoglucomutase Deficiency: This type of OGSD affects the enzyme that converts glucose-1-phosphate to glucose-6-phosphate. Symptoms can include low blood sugar, muscle weakness, and liver enlargement.
  3. Phosphofructokinase Deficiency: This type of OGSD affects the enzyme that regulates the breakdown of glucose in muscle cells. Symptoms can include muscle cramps, fatigue, and exercise intolerance.
  4. Glycogenin-1 Deficiency: This type of OGSD affects the enzyme that initiates the formation of glycogen. Symptoms can include muscle weakness, low blood sugar, and liver enlargement.
Symptoms of Other Glycogen Storage Disease

The symptoms of OGSD can vary depending on the type of disorder and the severity of the condition. Some common symptoms include:

  • Low blood sugar
  • Muscle weakness
  • Liver enlargement
  • Exercise intolerance
  • Fatigue
  • Abnormal liver function tests
  • Delayed growth
Diagnosis of Other Glycogen Storage Disease

Diagnosis of OGSD involves a combination of physical exam, medical history, and laboratory tests. Blood tests can be used to measure glycogen levels in the body, as well as to identify any genetic mutations that may be causing the disorder.

Conclusion

OGSD is a rare genetic disorder that affects the storage and release of glycogen in the body. There are several different types of OGSD, each of which is caused by a different genetic mutation. The symptoms of OGSD can vary depending on the type of disorder and the severity of

Treatment of Other glycogen storage disease:

Treatment Options for Other Glycogen Storage Diseases

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that affect how the body stores and uses glycogen. There are several types of GSDs, including other glycogen storage diseases, which are less common than the more well-known types like Pompe disease and Von Gierke disease.

Other glycogen storag...

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