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Acta Neurológica Colombiana
versão impressa ISSN 0120-8748versão On-line ISSN 2422-4022
Resumo
MILLAN-PEREZ, Sonia Patricia et al. Pompe's disease: History, epidemiology, pathophysiology and clinical manifestations. Acta Neurol Colomb. [online]. 2023, vol.39, n.2, e5. Epub 02-Nov-2023. ISSN 0120-8748. https://doi.org/10.22379/anc.v39i2.1752.
Introduction:
Pompe's disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset.
Contents:
In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described.
Conclusions:
It is necessary to recognize Pompe disease because this pathology is treatable.
Palavras-chave : Acid maltase deficiency disease; GAA deficiency; Pompe disease; Type II glycogenosis.