Tüdfibózisok

Tüdfibózisok refer to a group of rare genetic disorders that affect the body's ability to process and store glycogen, a form of glucose that serves as energy storage. These conditions are also known as glycogen storage diseases or GSDs. They are inherited in an autosomal recessive pattern, meaning an individual must inherit a faulty gene from both parents to be affected.

The symptoms of tüdfibózisok vary widely depending on the specific type and the enzyme or protein affected. However, common manifestations can include muscle weakness, fatigue, low blood sugar (hypoglycemia), enlarged liver and spleen (hepatosplenomegaly), and developmental delays. Some types can also impact the heart, kidneys, and nervous system.

Diagnosis typically involves a combination of clinical evaluation, blood tests to measure enzyme activity and glucose levels, and often a muscle or liver biopsy to confirm the diagnosis and identify the specific type of tüdfibózis. Genetic testing can also be used to identify the underlying gene mutation.

Currently, there is no cure for tüdfibózisok. Treatment focuses on managing symptoms and preventing complications. This often involves dietary modifications, such as frequent meals and a diet rich in complex carbohydrates to maintain stable blood sugar levels. In some cases, medications or enzyme replacement therapy may be used. Close monitoring by a multidisciplinary medical team is essential for individuals with these conditions.