Detection and treatment of lysosomal storage diseases – adult forms of Pompe disease

Abstract:

Pompe disease is a rare, progressive, and often fatal disease that can be diagnosed in infants, children, and adults. The underlying pathology is a deficiency or dysfunction of acid alpha-glucosidase (GAA), a lysosomal enzyme that hydrolyzes lysosomal glycogen to glucose. The clinical manifestations of Pompe disease reflect a continuous spectrum of disease phenotypes, which differ in terms of age of onset, extent of organ involvement, and rate of symptom progression. In all forms, however, the most pronounced sign is muscle weakness. A person with late-onset Pompe disease does not show the symptoms at birth. On the other hand, disease progression is more variable in the late-onset patients. Cause of death is usually a cardiorespiratory failure. Most of the diagnostic methods available for confirming a clinical diagnosis of Pompe disease measure GAA enzyme activity in various tissue specimens. The development and recent approval of recombinant acid alpha-glucosidase for enzyme replacement therapy has been a major milestone in Pompe disease treatment. The medication has been shown to significantly improve the survival of infants and adults with Pompe disease, as compared to historical baseline

Key words:
enzyme replacement therapy; GAA protein, human; glucan 1,4-alpha-glucosidase; glycogen storage disease type II; lysosomal storage diseases