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Pompe disease

DOI: https://doi.org/10.29296/25879979-2021-05-11
Issue: 
5
Year: 
2021

V.V. Skvortsov, A.R. Ponomareva Volgograd state medical university, Russian Health Ministry

Pompe disease (glycogenosis type II) is an autosomal recessive rare hereditary disease of a systemic nature. This disease is all about deficiency of the alpha-glucosidase enzyme which accumulate in lysosomes; a-1,4-glucosidase helps to break down glycogen. Because of mutation in the gene GAA which encodes enzyme glycogen accumulate in various organs such as heart, muscle, liver, brain. The build-up of glycogen causes dysfunction organs which can be over dead.

Keywords: 
Pompe disease
deficiency acid 1
4-glucosidase
multiple organ
diagnosis
treatment



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