glikánhiánybetegségekhez

Glycogen storage diseases (GSDs), also known as glycogenoses or glycogenic storage diseases, are a group of inherited metabolic disorders characterized by the body's inability to properly break down or store glycogen. Glycogen is a complex carbohydrate that serves as a form of stored energy in the liver and muscles. These disorders result from defects in specific enzymes involved in glycogen synthesis or breakdown.

There are numerous types of GSDs, each caused by a deficiency in a different enzyme. The most common types include Von Gierke's disease (GSD I), Pompe disease (GSD II), Cori disease (GSD III), and McArdle's disease (GSD V). The symptoms and severity of GSDs vary significantly depending on the specific enzyme affected and the tissues involved. Common manifestations can include hypoglycemia (low blood sugar), liver enlargement, muscle weakness, poor growth, and fatigue.

Diagnosis typically involves a combination of clinical evaluation, blood tests to check glucose levels and enzyme activity, and sometimes a muscle or liver biopsy. Treatment strategies are tailored to the specific type of GSD and aim to manage symptoms and prevent complications. This may include dietary modifications, such as frequent carbohydrate intake or cornstarch supplements, to maintain stable blood glucose levels, and supportive care for affected organs. Genetic counseling is often recommended for families affected by GSDs due to their inherited nature.