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Article

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.

BMC pediatrics - 18 Mar 2024

Alizadeh Yasaman, Saidi Hossein, Saeedi Vahid, Kamalzadeh Leila

Abstract excerpt

BACKGROUND: 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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Share to alpha-Glucosidases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38500078
DOI: 10.1186/s12887-024-04690-6
PMCID: PMC10946141

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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