Pompe disease
Pompe Disease
Pompe disease (pronounced: pom-pey disease), also known as Glycogen storage disease type II or Acid maltase deficiency, is a rare, inherited and often fatal disorder that disables the heart and muscles. It is named after the Dutch doctor, Johannes C. Pompe, who first identified the condition in 1932.
Etymology
The term "Pompe disease" is derived from the name of the Dutch pathologist, Dr. Johannes C. Pompe, who first described this disorder in a 7-month-old girl in 1932.
Definition
Pompe disease is a type of lysosomal storage disorder caused 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.
Symptoms
The symptoms of Pompe disease vary widely in terms of severity and the age at which they appear. The disease is usually categorized into two forms based on the age of onset: Infantile-onset Pompe disease and Late-onset Pompe disease.
Causes
Pompe disease is caused by mutations in the GAA gene. This gene provides instructions for producing an enzyme called acid alpha-glucosidase, which is responsible for breaking down glycogen within lysosomes. In people with Pompe disease, mutations in the GAA gene reduce or completely eliminate the activity of acid alpha-glucosidase, preventing the enzyme from breaking down glycogen.
Diagnosis
Diagnosis of Pompe disease involves a series of tests including a physical examination, medical history, and specific laboratory tests. The definitive test for Pompe disease is an enzyme assay, which measures the quantity and activity of the acid alpha-glucosidase enzyme.
Treatment
The primary treatment for Pompe disease is enzyme replacement therapy (ERT) with a medication called alglucosidase alfa (Myozyme and Lumizyme). This treatment can slow the progression of the disease, but it cannot cure it.
Prognosis
The prognosis for individuals with Pompe disease varies depending on the age of onset and the severity of symptoms. Early detection and intervention can significantly improve the quality of life and lifespan of individuals with this disease.
See Also
External links
- Medical encyclopedia article on Pompe disease
- Wikipedia's article - Pompe disease
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