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Article

Molecular genetics of Pompe disease: a comprehensive overview

1 Jul 2019

Abstract excerpt

Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. The GAA gene has been localized to chromosome 17q25.2-q25.3 and...

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PMID: 31392190
DOI: 10.21037/atm.2019.04.13

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