It is known by several names: acid maltase
deficiency; glycogen storage disease type II; and glycogenosis type II.
One of the main attractions will be keynote speaker John Crowley, best known as the inspiration for the 2010 film Extraordinary Measures, which details his efforts to find a cure for Pompe's disease (or acid maltase
deficiency) to save his two youngest children who suffer from it.
Beaudette went to UMass Memorial Medical Center in Worcester, where it was determined she had contracted late-onset acid maltase
deficiency, more commonly known as Pompe disease.
Pompe disease, first identified in 1932 by Dutch pathologist Johann Pompe, is a condition in which a person is born with an extreme shortage of the acid maltase
Metabolic Diseases of Muscles These are caused by inherited chemical deficiencies of a specific enzyme, such as phosphorylase (McArdle's disease), acid maltase
(Pompe's disease) or carnitine palmitoyl transferase.
Urine samples from adult Pompe patients (n = 5) were obtained through the Acid Maltase
Deficiency Association (Australia).
Pompe disease, also known as glycogen storage disease type II or acid maltase
deficiency, is a relatively rare lysosomal storage disorder caused by an inherited mutation in the lysosomal enzyme alpha-glucosidase (GAA).
In healthy individuals, acid maltase
breaks down sugars that are stored in the body's muscle cells.
House, chairman of the International Pompe Association and president of the Acid Maltase
Deficiency Association (AMDA), a Pompe patient association in the United States.
Currently, the treatment being studied is acid maltase
enzyme replacement; gene therapy is also being evaluated for use in the future.
Many health conditions such as kidney failure, post-surgical overload and metabolic diseases such as glucose intolerance, hyperglycemia and acid maltase
can cause fluid-overload, however congestive heart failure (CHF) is the leading cause.
Pompe's disease, also called acid maltase
deficiency or glycogen storage disorder type II, is caused by a complete or partial deficiency of the enzyme human alpha-glucosidase, and affects an estimated 5,000 - 10,000 people in the Western world.