Pompe disease


Also found in: Medical.

Pompe disease

[′pämp di‚zēz]
(medicine)
A hereditary glycogen storage disease in humans arising from deficiency of a lysosomal enzyme and characterized by weakness, enlargement of the heart and cardiac failure, enlargement of the tongue, and moderate enlargement of the liver.
References in periodicals archive ?
17, 2015 /PRNewswire/ -- About pompe disease Pompe disease, a type of LSD, is caused by mutations in the GAA gene.
The couple shared a heartbreaking letter online yesterday about the tots' battle with pompe disease.
Contract notice: Drug delivery with drug programs - alglucosidasum alfa - pompe disease usk / dzp / pn-91/2015.
com)-- Access Health[R], a magazine-style health and wellness series, will dedicate an entire 30-minute episode to raising awareness about Pompe Disease on Wednesday, April 15 at 7:30 a.
He has Pompe disease, which gives him minimal use of his muscles.
Pompe disease (PD) is a progressive, debilitating multisystemic neuromuscular disease.
Due to growing profits from orphan drugs for Pompe disease, coupled with market recovery of carbon black, the firm is expected to see profits peak in the fourth quarter.
Effective enzyme replacement therapy is available for Pompe disease [also known as glycogen storage disease type II, caused by acid [alpha]-glucosidase (GAA) deficiency], Fabry disease [[alpha]-galactosidase (GLA) deficiency], Hurler syndrome (mucopolysaccharidosis type I, [alpha]-iduronidase deficiency), Hunter disease (mucopolysaccharidosis type II, iduronate-2-sulfatase deficiency), Maroteaux-Lamy disease (mucopolysaccharidosis type VI, [alpha]-acetylgalactosamine 4-sulfatase deficiency), and Gaucher disease (glucocerebrosidase deficiency) (5, 6).
Featured speakers will include John Crowley, who founded Novazyme Pharmaceuticals to develop treatments for Pompe disease when his children developed the illness; Surgeon General Regina Benjamin, M.
Then, in November, the FDA warned of the potential for foreign particle contamination in all lots of the two aforementioned therapies plus Myozyme (alglucosidase alpha) for Pompe disease, Aldurazyme (laronidase) for mucopolysaccharidosis type I and Thyrogen (thyrotropin alpha) for thyroid cancer.
EXTRAORDINARY MEASURES (PG) stars Brendan Fraser and Keri Russell as the parents of two children with rare Pompe Disease, a terminal form of muscular dystrophy for which there is no cure.