Article

Infantile-Onset Pompe Disease: A Case Report Emphasizing the Role of Genetic Counseling and Prenatal Testing

2023-09-18

Abstract excerpt

<h4>Background: </h4> Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance Case Presentation: An...

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Literature Corpus work: 5546d9fb-c38a-59e0-a74a-a7057b028019
DOI: 10.21203/rs.3.rs-3276242/v1

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