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[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].

Revista medica del Instituto Mexicano del Seguro Social - 8 Jan 2024

Flores-Gonzale Alison, Herrera-Del Valle Luis Enrique, Lara-Ramírez Víctor Ramón, Marco-Valdez Ixchel, Torres-Pedroza Ariadna Judith, Briceño-Rodas Karla Jannet

Abstract excerpt

Background: Pompe disease (PD) is a rare autosomal recessive genetic disorder (1 in 14,000) which affects the synthesis of acid alpha-glucosidase (AGA), leading to intralysosomal glycogen accumulation in muscle tissue. The clinical presentation is heterogeneous, with variable degrees of involvement and progression, classifiable based on the age of onset into infantile (classic or non-classic) and late-onset forms...

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Identifiers

PMID: 39110956
DOI: 10.5281/zenodo.10278165

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