glycogen storage disease type II

(redirected from Infantile-onset Pompe Disease)

glycogen storage disease type II

A glycogen storage disease caused by a deficiency of lysosomal a-glucosidase.
Synonym: Pompe disease
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References in periodicals archive ?
Patients with infantile-onset Pompe disease have severe hypotonia and muscle weakness with cardiac involvement in thefirst few months of life that induce cardiorespiratory failure and death before 1 year of age.
(2) Infantile-onset Pompe disease (IOPD) is the most severe type of this disease.
The goal of the present study was to test a variant of the MS/MS GAA assay with an exceptionally large analytical range of 187 on a set of DBS in Taiwan from newborns confirmed to be affected with infantile-onset Pompe disease (IOPD), those predicted to develop late-onset Pompe disease (LOPD), those with pseudodeficiency alleles with or without Pompe mutations, and Pompe disease carriers.
Corzo, "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease," Journal of Pediatrics, vol.
Voit et al., "Chinese hamster ovary cell-derived recombinant human acid [alpha]-glucosidase in infantile-onset Pompe disease," Journal of Pediatrics, vol.
[3.] Kishnani P, Hwu W, Mandel H, Nicolino M, et al.; Infantile-onset Pompe Disease Natural History Study Group.
Corzo, "Infantile-onset Pompe disease natural history study G: a retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease," The Journal of Pediatrics, vol.
Genzyme, is currently conducting two clinical trials to evaluate the use of the rhGAA enzyme to treat infantile-onset Pompe disease. The program is currently the largest and most advanced research and development initiative at Genzyme.
Here, we report a case of atypical infantile-onset Pompe disease from a Chinese family based on genetic and enzyme activity analyses.
Classic infantile-onset Pompe disease (IOPD) presents in early infancy with hypertrophic cardiomyopathy, generalized muscle weakness, and failure to thrive.