Successful pregnancy outcome in patient with Pompe disease despite discontinuation of enzyme replacement therapy

Successful pregnancy outcome in patient with Pompe disease despite discontinuation of enzyme replacement therapy

Background: Pompe disease (PD), is an autosomal recessive metabolic disorder caused by mutations in the acid alpha-glucosidase (GAA) gene, resulting in a deficiency of the same enzyme and glycogen buildup in tissues. Late onset PD (LOPD) is characterized by muscle illness, accompanied by diaphragmat...

Full description

Saved in:
Bibliographic Details
Main Authors: Dunja Leskovar Lemešić, Dražen Perica, Gordan Zlopaša, Biserka Knezić Frković, Nediljko Šućur, Željko Reiner, Ivan Pećin
Format: Article
Language:English
Published: SMC MEDIA SRL 2025-05-01
Series:European Journal of Case Reports in Internal Medicine
Subjects:
late onset pompe disease
pregnancy
enzyme replacement therapy
muscle weakness
Online Access:https://www.ejcrim.com/index.php/EJCRIM/article/view/5456
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items