Pompe disease (glycogen storage disease Type II, acid maltase
deficiency, and OMIM #232300) is a rare, progressive, autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
The diagnosis is confirmed by estimation of acid maltase activity in muscle or liver biopsy.
Trend PS, Wiles CM, Spencer GT, et al; Acid maltase deficiency in adults.
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).
In acid maltase
deficiency, carnitine deficiency and debrancher enzyme deficiency, progressive muscle weakness, rather than exercise intolerance, is the primary symptom.
In healthy individuals, acid maltase
breaks down sugars that are stored in the body's muscle cells.
Currently, the treatment being studied is acid maltase
enzyme replacement; gene therapy is also being evaluated for use in the future.