Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

ABSTRACT: Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 m

SUBMITTER: de Las Heras J 

PROVIDER: S-EPMC8620435 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature