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
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.
Initiation of enzyme replacement therapy in infants with infantile-onset Pompe disease diagnosed through NBS in Taiwan has resulted in normal cardiac and pulmonary function and near normal fine and gross motor development in this otherwise inevitably fatal disease.
Food and Drug Administration today announced the approval of Lumizyme (alglucosidase alfa) for treatment of patients with infantile-onset Pompe disease, including patients who are less than 8 years of age.
The REMS was required to mitigate the potential risk of rapid disease progression in the infantile-onset Pompe disease patients and patients with late onset disease less than 8 years of age, and to communicate the risks of anaphylaxis, severe allergic reactions and severe skin and systemic immune mediated reactions to prescribers and patients.
Infantile-onset Pompe Disease Natural History Study Group.
Kishnani PS, Corzo D, Nicolino M, et al Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease.
Genzyme, is currently conducting two clinical trials to evaluate the use of the rhGAA enzyme to treat infantile-onset Pompe disease.
Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of Myozyme in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy.
Here, we report a case of atypical infantile-onset Pompe disease from a Chinese family based on genetic and enzyme activity analyses.
Acute cardiorespiratory failure requiring intubation and inotropic support has been observed up to 72 hours after infusion with Myozyme in infantile-onset Pompe disease patients with underlying cardiac hypertrophy, possibly associated with fluid overload with intravenous administration of Myozyme.
has been shown to improve ventilator free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of Myozyme in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy.
Genzyme and Pharming plan to initiate a second clinical trial of the CHO-cell product by the end of 2000 in patients with infantile-onset Pompe disease.