Pompe disease (PD) is a rare inborn error of
metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that
comprises glycogen breakdown mainlyin the
lysosomes. Since the introduction of enzyme replacement therapy (ERT), with
recombinant human GAA for the early onset PD patient, a relevant field of
clinical research due to the benefits regarding survival rate has been widely
documented worldwide. Objective: To describe the clinical characteristics and the ERT
effects in a series of Brazilianpatients
with infantile onsetPD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT
were recruited through their physicians participating in the International
Pompe Disease Registry from 2009 to 2017. Data were collected by an online
survey. Results: 10 IOPD
patients were identified through the survey with adeath
rate of 30% and technology dependency rate reported as 80% (motor, respiratory
or nutritional fields) of the patients. Afterthe third
year of ERT, motor disabilities were lost in 50% of ambulated patients.The
overall characteristics were similar to international studies. Conclusion:Despite
ERT benefits in cardiac involvement, motor disabilities seem to be much
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