Related Experiment Video
Updated: May 15, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Pregnancy during enzyme replacement therapy for late-onset acid maltase deficiency
Fabien Zagnoli1, Amelie Leblanc, Christian Blanchard
1Hôpital Clermont Tonnerre, rue Fonferrier, 29200 Brest, France. fabien.zagnoli@santarm.fr
Abstract:
We report the case of a female patient who developed Pompe's disease when she was 19. She received enzyme replacement therapy from the age of 35, and after three years of treatment the improvement in her clinical condition was such that she was able to consider having a baby. It was the patient's wishes to continue with her treatment throughout the entirety of her pregnancy. There were no complications, but there was a clear deterioration in motor and respiratory functions. She delivered at term by Caesarean section, and the child was healthy. Six months later, we noted an improvement of her motor and respiratory functions. The child was developing normally.
Related Concept Videos
Inborn Errors of Metabolism
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Alkylation of β-Diester Enolates: Malonic Ester Synthesis
Pharmacokinetics in Pediatric Patients: Drug Metabolism

