Pompe's disease


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Pompe's disease

 [pom´pez]
glycogen storage disease (type II), a condition in which deficiency of the enzyme α-1,4-glucosidase results in generalized glycogen accumulation, with cardiomegaly and usually fatal cardiorespiratory failure; children affected with this disease are mentally retarded and hypotonic. Called also generalized glycogenosis.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

Patient discussion about Pompe's disease

Q. help with tingling in the hands amd numness

A. I have experienced the same conditions in the past on numerous occasions. The malady, more than likely, is Carpal Tunnel Syndrome. You should consult a neurologist for a diagnosis.

More discussions about Pompe's disease
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References in periodicals archive ?
Through this patent, a viable production method for human alpha-Glucosidase to treat Pompe's disease was disclosed for the first time ever.
I found three or four doctors working on Pompe's disease who had virtually no funding at all.
Also called: Glycogenosis type 2, Pompe's disease (infantile form), lysosomal storage disease
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Pompe's disease is a progressive, debilitating, and often fatal neuromuscular disorder resulting from the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA) [26].
Fusiform aneurysm of basilar artery and ectatic internal carotid arteries associated with glycogenosis type 2(Pompe's disease).
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.
Anand, who won the top journalism prize in 2003, explained that it was during one of her stories that she chanced upon John Crowley ( the protagonist of the book), who was trying to raise funds to research the rare Pompe's disease that afflicted his two young children.
Dr Ed Wraith, a paediatrician who treated Azaria at Manchester Children's Hospital, said: "It is great news that Azaria is one of a number of children with Pompe's Disease who have been kept alive by the drug treatment.
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.