Glycogen storage disease type II natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Natural History
Complications
Prognosis
The prognosis for individuals with Pompe disease varies according to the onset and severity of symptoms. Without treatment the disease is particularly lethal in infants and young children.
Myozyme (alglucosidase alfa), a recombinant form of the human enzyme acid alpha-glucosidase, is currently being used to replace the missing enzyme. Myozyme helps break down glycogen. In a study[1] which included the largest cohort of patients with Pompe disease treated with enzyme replacement therapy (ERT) to date findings showed that Myozyme treatment clearly prolongs ventilator-free survival and overall survival in patients with infantile-onset Pompe disease as compared to an untreated historical control population. Furthermore, the study demonstrated that initiation of ERT prior to 6 months of age, which could be facilitated by newborn screening, shows great promise to reduce the mortality and disability associated with this devastating disorder.
The only "cure" for Glycogen Storage Disease Type II may ultimately lay in future technologies such as gene therapy.
References
- ↑ Wagner KR (2007). "Enzyme replacement for infantile Pompe disease: the first step toward a cure". Neurology. 68 (2): 88–9. doi:10.1212/01.wnl.0000253226.13795.40. PMID 17210887.