Genetics of Glycogen-Storage Disease Type II (Pompe Disease) Medication

Updated: Feb 29, 2016
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Medication

Medication Summary

Recombinant human enzyme alpha-glucosidase (rhGAA) is indicated as an orphan drug for treatment of glycogen-storage disease type II (GSD II; Pompe disease).

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Enzyme replacement

Class Summary

Recombinant human enzyme alpha-glucosidase has recently been designated an orphan drug.

Alglucosidase alfa (Lumizyme, Myozyme)

Recombinant human enzyme alpha-glucosidase (rhGAA) is indicated for treatment of Pompe disease in all age groups. It replaces rhGAA, which is deficient or lacking in persons with GSDII. Alpha-glucosidase is essential for normal muscle development and function. Binds to mannose-6-phosphate receptors and is then transported into lysosomes; undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. Improves infant survival without requiring invasive ventilatory support compared with historical controls without treatment.

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