In clinical trials, Nexviazyme treatment showed comparable safety profile and efficacy to treatment with Lumizyme. In 2021, Genzyme received accelerated approval from the FDA to market Nexviazyme, a second-generation therapy that is able to more efficiently deliver the enzyme missing in Pompe disease to target cells. They have significantly improved the outlook for people with acid maltase deficiency.Īfter a decade of research, another therapeutic option, Nexviazyme, became available to people with late-onset Pompe disease. In 2010, Genzyme announced the availability of Lumizyme, which is similar to Myozyme, for patients with late-onset Pompe disease.īoth drugs substitute for the enzyme missing in Pompe disease and may keep muscle cells from dying. of Cambridge, Mass., with support from MDA. Food and Drug Administration granted approval for the use of Myozyme as a treatment for infantile-onset Pompe disease. It is the prototype of the primary immunodeficiency diseases and is caused by numerous molecular defects that lead to severe compromise in the number and function of T cells, B cells, and occasionally. Until recently, there was no treatment for this condition, and the only remedy was supportive medical care. Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections, diarrhea, dermatitis, and failure to thrive. What is the status of research on acid maltase deficiency? Prior to the development of treatment (see below), the infantile form was often fatal within the first year of life. It is slowly progressive and less severe in its childhood- and adult-onset forms. This disease has its onset anywhere from infancy to adulthood. What is the progression of acid maltase deficiency? What causes acid maltase deficiency?Īcid maltase deficiency results from a defect in the gene for the acid maltase enzyme (also known as acid alphaglu cosidase) that prevents the breakdown of glycogen (stored sugar). To learn more about the effect of diet in this disease, see What Not to Eat: Some consensus, much controversy about diet in three metabolic diseases. The childhood and adult-onset forms are milder than the infantile form, but may cause severe weakness and respiratory insufficiency, and, without treatment, shortened life span. Cardiac involvement may occur in the infantile or childhood forms but is less common in adults. Enlargement of the tongue and liver impairment occur in the infantile form but rarely in the older-onset forms. This disease causes slowly progressive weakness, especially of the respiratory muscles and those of the hips, upper legs, shoulders and upper arms. What are the symptoms of acid maltase deficiency? Download our Pompe Disease Fact Sheet What is acid maltase deficiency (also called AMD, Pompe disease, glycogenosis type 2, acid-alpha glucosidase deficiency, lysosomal storage disease)?Īcid maltase deficiency is a metabolic muscle disorder, a group of diseases that interferes with the processing of food (in this case, carbohydrates) for energy production. X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males.
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