Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy
نویسندگان
چکیده
منابع مشابه
Pompe 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 کاملS2.1 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 کاملEnzyme replacement therapy and antibodies in late-onset Pompe disease
http://dx.doi.org/10.1016/j.ymgmr.2014.01.001 2214-4269/© 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND licen (http://creativecommons.org/licenses/by-nc-nd/3.0/). Patients with late-onset Pompe disease receiving enzyme replacement therapy (ERT) usually develop IgG antibodies against algucosidase alpha (anti-rhGAA) within the first 3 months. Th...
متن کاملLate-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience
Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe's disease with progressive proximal muscles weakness over ...
متن کاملFirst Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation.
recessive disorder resulting from a defi ciency of acid α-glucosidase (GAA, or acid maltase), includes two main forms – infantileand late-onset glycogen storage disease type II (GSD II). Despite the age of onset and different life prognosis, Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. The late-onset form of Pompe disease (L...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2012
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2012.10.017