Acid maltase deficiency
Acid Maltase Deficiency (pronunciation: a-sid mal-tase de-fi-cien-cy) is a rare genetic disorder also known as Pompe disease or Glycogen storage disease type II. It is characterized by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
Etymology
The term "Acid Maltase Deficiency" is derived from the enzyme "acid maltase" which is deficient in individuals with this condition. The enzyme, also known as alpha-glucosidase, is responsible for breaking down glycogen into glucose. The term "deficiency" refers to the lack or shortage of this enzyme.
Symptoms
Symptoms of Acid Maltase Deficiency can vary greatly among affected individuals and largely depend on the form of the disease. The classic infantile form is characterized by muscle weakness, poor muscle tone, and heart defects. The non-classic form of the disease can include muscle weakness, respiratory problems, and difficulty swallowing.
Diagnosis
Diagnosis of Acid Maltase Deficiency is often made through a combination of clinical examination, patient history, and laboratory tests. These tests may include a blood test to measure the level of acid maltase in the blood, a muscle biopsy to examine the muscle tissue for glycogen accumulation, and genetic testing to identify mutations in the GAA gene.
Treatment
There is currently no cure for Acid Maltase Deficiency. Treatment is symptomatic and supportive, and may include physical therapy, respiratory support, and a special diet. Enzyme replacement therapy with alglucosidase alfa (Myozyme) has been shown to slow the progression of the disease.
See also
External links
- Medical encyclopedia article on Acid maltase deficiency
- Wikipedia's article - Acid maltase deficiency
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