Progress in enzyme replacement therapy in glycogen storage disease type II
نویسندگان
چکیده
منابع مشابه
S2.1 Enzyme replacement therapy (ERT) in Glycogen Storage Disease Type II: the first treatment developed
Since 2006 ERT is available in Europe and numerous studies were reported both in infantile and in juvenile adult patients that demonstrated variable efficacy (1, 2). We have followed infants treated with ERT either early in the first year or later. In one child with onset at birth, diagnosed in the third day of life we observed an excellent long-term clinical response on severe bradycardia and ...
متن کاملPompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a ...
متن کاملEvidence of cardiomyocyte necrosis in glycogen storage disease type II.
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac troponin T and I are likely to be involved. This case report describes a 39-year-old man with no classical risk factors for premature cardiac ...
متن کاملTowards a molecular therapy for glycogen storage disease type II (Pompe disease).
Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal enzyme. Currently, there is no treatment for this fatal disorder. However, several lines of research suggest the possibility of future treatment. Enzyme replacement strategies hold the greatest hope for patien...
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
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ژورنال
عنوان ژورنال: Therapeutic Advances in Neurological Disorders
سال: 2009
ISSN: 1756-2864,1756-2864
DOI: 10.1177/1756285609103324