Phenotypic implications of pathogenic variant types in Pompe disease

Manuel A. Viamonte1,2 ● Stephanie L. Filipp3 ● Zara Zaidi4,8 ● Matthew J. Gurka3 ● Barry J. Byrne4 ● Peter B. Kang 1,5,6,7
Received: 25 January 2021 / Revised: 1 April 2021 / Accepted: 20 April 2021
© The Author(s), under exclusive licence to The Japan Society of Human Genetics 2021

Abstract
Newborn screening and therapies for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More (glycogen storage disease type IIThe scientific name for Pompe disease, based on how glycogen builds up in the body. More, acid maltase deficiency) will continue
to expand in the future. It is thus important to determine whether enzymeA protein that helps the body carry out chemical reactions. More activity or type of pathogenic genetic variant in
GAA can best predict phenotypic severity, particularly the presence of infantile-onset Pompe disease (IOPD)A severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More versus late onset Pompe diseaseA form of Pompe disease that begins after infancy and usually progresses more slowly. More (LOPDA form of Pompe disease that begins after infancy and usually progresses more slowly. More).

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Phenotypic implications of pathogenic variant types in Pompe Disease