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Archivos de Medicina Interna

versión impresa ISSN 0250-3816versión On-line ISSN 1688-423X

Resumen

ROZADA, Raúl et al. Pompe’s Disease: first genetically confirmed case with adult onset reported in Uruguay. Arch. Med Int [online]. 2015, vol.37, n. 2, pp.102-105. ISSN 0250-3816.

Pompe disease in Uruguay. The first case in an adult genetically confirmed. Pompe disease, also known as type II glycogenosis, is a progressive autosomal recesive glycogen storage disease caused by a deficiency of lysosomal acid-a-glucosidase (GAA), primarily in skeletal and cardiac muscle, and by defects in autophagy, with an age of onset ranging from infancy through adulthood. In adult onset the tipical presentation is with a limb girdle dystrophy pattern (that engaged especially the hip girdle) or dyspnea secondary to diaphragm weakness. A simple blood-based assay to measure the level of α-glucosidase activity, like dried blood spot test, is the optimal initial test and is needed a second test to confirm the disease (alpha glucosidasa activity in cultured fibroblast or muscle tissue or by genetic testing). An early diagnosis of Pompe disease will improve patient outcomes as care standards including enzyme replacement therapy can be applied and complications can be anticipated. The introduction of enzyme replacement therapy for GAA deficiency using recombinant human GAA (rhGAA) changed the course of the disease with an improvement especially in infantile forms but also in late onset Pompe disease. We describe our first case of adult onset Pompe disease in Uruguay.

Palabras clave : Pompe; metabolics myopathies.

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