Maria José Guimarães , Hospital da Luz Guimarães pulmonologist , was one of the guest speakers in the 5 th International Congress of Glycogen Storage Diseases , which took place in Porto Alegre, Brazil, between 14 and 16 November. The specialist gave a lecture on Pompe disease – sharing her research work on this pathology related with sleep and ventilation in rare diseases – and gave also a class on ventilation (also streamed to Singapore, in the scope of an educational session destined to physicians). This congress had for purpose to strengthen relations between specialists and GSD patients (glycogen storage diseases), share ideas, stimulate international collaboration and improve service to patients with hepatic and muscle glycogen, and their respective families. Pompe disease (or type II glycogen) is a rare disease, with lysosomal overload, caused by glucose oxidase enzyme deficient activity, which is essential to the process of glycogen degradation. When this degradation does not occur, glycogen accumulates in cell lysosomes, particularly in muscle cardiac, smooth and skeletal tissues, leading to cellular dysfunction. Patients present muscle weakness, sleep apnea and recurrent respiratory infections, hitting mainly the diaphragm and leading to the inability to breath. The main conclusion of the studies conducted until present by Maria José Guimarães is that the disease is treatable, when diagnosed in time.
