Glycogen storage disease type II
Glycogen Storage Disease Type II
Glycogen storage disease type II (pronounced: gly-co-gen stor-age dis-ease type two), also known as Pompe disease, is a rare genetic disorder that prevents the body from using glycogen, a form of sugar stored in muscles, including the heart. This leads to an accumulation of glycogen in certain organs and tissues, impairing their ability to function normally.
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 a group of genetic disorders that result from defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Symptoms
Symptoms of Glycogen storage disease type II can vary greatly in severity and the age at which they appear. The disease is broken down into two forms based on the severity of symptoms and their onset: the Infantile form and the Late-onset form.
Diagnosis
Diagnosis of Glycogen storage disease type II is typically made through a physical examination, medical history, and laboratory tests, including a blood test to measure the level of acid alpha-glucosidase enzyme activity.
Treatment
Treatment for Glycogen storage disease type II typically involves managing the symptoms and may include physical therapy, respiratory therapy, and a special diet. Enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme) is the only disease-specific treatment available.
Prognosis
The prognosis for individuals with Glycogen storage disease type II varies depending on the form of the disease. The infantile form is typically fatal in the first year of life, while individuals with the late-onset form can live into adulthood with proper management of symptoms.
See also
External links
- Medical encyclopedia article on Glycogen storage disease type II
- Wikipedia's article - Glycogen storage disease type II
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski