First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation
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منابع مشابه
First 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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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 کاملLate onset glycogen storage disease type II: pitfalls in the diagnosis.
BACKGROUND/AIMS Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency. The infantile form is easier to recognize compared with the milder adult form that may manifest as myopathy without specific clinical characteristics. The aim of this study is to highlight frequent diagnostic errors in adult GSD-II patients. CASE REPORTS We report f...
متن کاملInfantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a rare autosomial recessive disease due to deficiency of lysosomal acid alpha-glucosidase (GAA). The infantile-onset form is the most severe, and most patients present with hypotonia and cardiomyopathy in early infancy. We report on a typical case of Pompe disease in a patient who died at 8 months of age due to aspiratio...
متن کاملDetection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II.
Glycogen storage disease II (GSDII or Pompe disease, OMIM # 232300) is an autosomal recessive hereditary lysosomal disorder. Mutations in the GAA gene usually lead to reduced acid α-glucosidase (acid maltase, GAA, OMIM *606800, EC 3.1.26.2) activity, which results in impaired degradation and subsequent accumulation of glycogen within lysosomes. We present an Iranian boy, who was diagnosed with ...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2015
ISSN: 2214-3599
DOI: 10.3233/jnd-159024