Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Abstract Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopathy, hypotony, feeding difficulties, and oxygen requirement...

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Bibliographic Details
Main Authors: Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza
Format: Article
Language:English
Published: Wiley 2022-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
acid alpha‐glucosidase
c.2066_2069delAGCC
GAA gene
infantile‐onset Pompe disease
neurologic
p.Glu689Glyfs*6
Online Access:https://doi.org/10.1002/mgg3.1957

Internet

https://doi.org/10.1002/mgg3.1957

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