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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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.

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Translate this page: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, தமிழ், తెలుగు, Urdu, ಕನ್ನಡ, Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, বাংলা
European español, Deutsch, français, Greek, português do Brasil, polski, română, русский, Nederlands, norsk, svenska, suomi, Italian
Middle Eastern & African عربى, Turkish, Persian, Hebrew, Afrikaans, isiZulu, Kiswahili,
Other Bulgarian, Hungarian, Czech, Swedish, മലയാളം, मराठी, ਪੰਜਾਬੀ, ગુજરાતી, Portuguese, Ukrainian

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.