Diagnostic and Clinical-Epidemiological Insights into Pompe Disease: A Retrospective Analysis at a Reference Center for Inborn Errors of Metabolism

Pompe disease (PD) is characterized by an inborn metabolic error resulting from the deficiency of the enzyme acid alpha-glucosidase, leading to glycogen accumulation within lysosomes. The severity of the disease is related to the age of symptom onset and the time to diagnosis. This study aimed to retrospectively evaluate the clinical and epidemiological profile of patients with suspected PD referred for diagnosis at a reference center for Inborn Errors of Metabolism in Brazil, between 2005 and 2010. Most diagnostic requests came from the Southeast region of Brazil, made by geneticists (29.2%), neurologists (21.3%), and pediatricians (14.4%) for infantile-onset phenotypes, and by pediatric neurologists (31.4%) and geneticists (28.9%) for late-onset phenotypes. Enzyme testing revealed 5.5% of positive cases for PD, of which 38.5% were classified as infantile-onset and 61.5% as late-onset. A high prevalence of muscular abnormalities was observed in all cases, with cardiac manifestations predominating in infantile-onset and neurological and neuromuscular symptoms in late-onset. These findings are relevant for improving early diagnostic and therapeutic strategies. Moreover, the data underscores the importance of multidisciplinary collaboration among medical specialists, in facilitating a more comprehensive and effective approach to managing PD.