Work

Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report

Year: 2025

Type: article

Abstract: Background: , leading to deficient acid α-glucosidase activity. Case: (c.2560C > T; p.Arg854*). Parental segregation testing confirmed both parents as heterozygous carriers. Serum creatine phosphokinase was 853 U/L. A cardiac evaluation was recommended but not completed at the time of initial assessment. Conclusion: This case underscores the diagnostic value of integrating enzyme and molecular testing when infantile-onset Pompe disease is suspected. While newborn screening for Pompe disease exists in some regions, it is not universally implemented, contributing to delays in diagnosis. Early identification allows appropriate counseling and consideration of available management pathways. Key clinical message: gene enables timely diagnosis, informs counseling, and guides management even in settings where access to enzyme replacement therapy is limited.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2025.101283

Authors: Anuradha Sharma, Minakshi Vashist, Rohit Kaushik, Gulshan Rohilla, Sonia Narwal

Institution: Maharshi Dayanand University

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,400