Glycogen storage disease type III

Glycogen Storage Disease Type III (also known as GSD III, Cori's disease, or Forbes disease) is a rare genetic disorder that primarily affects the liver and muscles. It is one of the many types of Glycogen Storage Diseases (GSDs), which are characterized by the inability to properly store or break down glycogen, a form of glucose that provides energy for the body.

Causes

GSD III is caused by mutations in the AGL gene, which provides instructions for making an enzyme called amylo-1,6-glucosidase, 4-alpha-glucanotransferase. This enzyme is involved in the breakdown of glycogen. Mutations in the AGL gene reduce or eliminate the function of this enzyme, preventing the body from breaking down glycogen effectively. This leads to the accumulation of abnormal, partially broken down glycogen in various tissues, particularly the liver and muscles.

Symptoms

The symptoms of GSD III typically appear in infancy and may include hypoglycemia, hepatomegaly, muscle weakness, and growth retardation. In some cases, individuals with GSD III may also develop cirrhosis or other liver complications. The severity of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of GSD III is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include blood tests, liver biopsy, and molecular genetic testing to identify mutations in the AGL gene.

Treatment

There is currently no cure for GSD III, but treatment is aimed at managing symptoms and preventing complications. This may include a special diet to maintain stable blood glucose levels, physical therapy to improve muscle strength, and regular monitoring for liver complications.

Prognosis

The long-term outlook for individuals with GSD III varies depending on the severity of symptoms and the presence of liver complications. With appropriate management, many individuals with GSD III can lead a normal life.

See also

• Glycogen Storage Diseases
• AGL (gene)
• Hypoglycemia
• Hepatomegaly
• Muscle weakness
• Growth retardation
• Cirrhosis

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