dc.creatorCabello Andrade, Juan Francisco
dc.creatorMarsden, Deborah
dc.date.accessioned2019-05-29T13:57:49Z
dc.date.available2019-05-29T13:57:49Z
dc.date.created2019-05-29T13:57:49Z
dc.date.issued2017
dc.identifierOrphan Drugs: Research and Reviews 2017:7 1–10
dc.identifier22306161
dc.identifier10.2147/ODRR.S69109
dc.identifierhttps://repositorio.uchile.cl/handle/2250/169145
dc.description.abstractPompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease). A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease). The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred.
dc.languageen
dc.publisherDove Medical
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
dc.sourceOrphan Drugs: Research and Reviews
dc.subjectChaperone therapy
dc.subjectEnzyme replacement therapy
dc.subjectGene therapy
dc.subjectGenotype/phenotype
dc.subjectGlycogen storage disease
dc.subjectLysosomal storage disease
dc.subjectNewborn screening
dc.subjectPompe disease
dc.titlePompe disease: Clinical perspectives
dc.typeArtículo de revista


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