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IP Journal of Paediatrics and Nursing Science


Pompe’s Disease


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Article Type : Research Article

Author Details: S Pushpa,E Deena*

Volume : 2

Issue : 2

Online ISSN : 2582-4031

Print ISSN : 2582-4023

Article First Page : 33

Article End Page : 35


Abstract

Pompe disease is a rare multisystem disorder caused by pathogenic variations in the GAA gene containing the information for production and function of a protein called acid alpha-glucosidase (GAA). Because of the shortage of this protein (an enzyme) a complex sugar named ‘glycogen’ cannot be degraded to a simple sugar like glucose. This causes the glycogen to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function. Pompe disease is inherited as an autosomal recessive genetic trait.

Keywords: Pompe’s disease, Autosomal recessive, Enzyme defect.