Glycogen storage disease type ii

Glycogen Storage Disease Type II

Glycogen storage disease type II (pronounced: glai-koh-jen stor-ij dih-zeez tipe too), also known as Pompe disease (pronounced: pom-pay dih-zeez), is a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen in the cells. It is part of a group of diseases known as Glycogen Storage Diseases.

Etymology

The disease is named after the Dutch pathologist, Dr. J.C. Pompe, who first described it in 1932. The term "glycogen storage disease" refers to the condition's characteristic accumulation of glycogen in the body's cells.

Causes

Glycogen storage disease type II is caused by mutations in the GAA gene. This gene provides instructions for producing an enzyme called acid alpha-glucosidase, which is necessary for the breakdown of glycogen. Mutations in the GAA gene reduce or eliminate the activity of this enzyme, preventing the normal breakdown of glycogen.

Symptoms

The symptoms of glycogen storage disease type II can vary widely in severity and the age at which they appear. The disease is divided into two forms based on the age of onset: infantile-onset and late-onset. The infantile-onset form is the most severe, with symptoms appearing in the first few months of life. The late-onset form can appear anytime from childhood to adulthood.

Diagnosis

Diagnosis of glycogen storage disease type II is based on a clinical examination, patient history, and confirmed by laboratory testing. This can include a blood test to measure the level of acid alpha-glucosidase, genetic testing to identify mutations in the GAA gene, and a muscle biopsy to detect glycogen accumulation.

Treatment

There is currently no cure for glycogen storage disease type II. Treatment is focused on managing the symptoms and improving the quality of life. This can include physical therapy, respiratory therapy, and a special diet. Enzyme replacement therapy (ERT) with a synthetic form of acid alpha-glucosidase is also available.

Related Terms

• Glycogen
• GAA gene
• Enzyme Replacement Therapy (ERT)
• Glycogen Storage Diseases
• Infantile-onset
• Late-onset

This WikiMD.org article is a stub. You can help make it a full article.