glycogen storage disease type II

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glycogen storage disease type II

A glycogen storage disease caused by a deficiency of lysosomal a-glucosidase.
Synonym: Pompe disease
References in periodicals archive ?
Glucogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency.
Reuser, "Glycogen storage disease type II: acid alpha glucosidase (acid maltase) deficiency," in The Metabolic and Molecular Bases of Inherited Disease, A.
The activity of lysosomal acid maltase (acid alpha-glucosidase GAA) measured in leukocytes was reduced to about 6% of control values.
The diagnosis is confirmed by estimation of acid maltase activity in muscle or liver biopsy.
It is known by several names: acid maltase deficiency; glycogen storage disease type II; and glycogenosis type II.
P Lotz, "The rigid spine syndrome due to acid maltase deficiency," Muscle & Nerve, vol.
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.
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.