Glycogenosis type II (acid maltase deficiency)
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منابع مشابه
Glycogenosis type II (acid maltase deficiency).
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysoso...
متن کاملAcid maltase deficiency--Pompe's disease.
Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD). We report a rare and interesting case of a young boy who presented with generalized weakness and reduced muscle bulk since childhood. He w...
متن کاملLysosomes in Type Ii Glycogenosis
Short papers submitted expressly for this section, reporting original and significant findings of immediate interest and judged to be acceptable without major revision, will be published within approximately three months. See inside back cover for details. Type II glycogenosis is a fatal disease of infants (1) characterized by increased concentration of tissue glycogen and deficient activity of...
متن کاملGeneralized glycogenosis type II (Pompe's disease).
Nihill, M. R., Wilson, D. S., and Hugh-Jones, K. (1970). Archives of Disease in Childhood, 45, 122. Generalized glycogenosis type II (Pompe's disease). The characteristic clinical features of 2 cases of Pompe's disease are presented, namely, signs of a cardiomyopathy with skeletal hypotonia and a characteristic ECG with a short PR interval and high voltage QRS complexes. Glycogen storage diseas...
متن کاملAn autopsy case of type II glycogenosis.
An autopsy case of Type II glycogenosis was reported with detailed description of ultrastructural findings. In addition to two typical patterns of glycogen deposition, membrane-bound lysosomal glycogen and membrane-free cytoplasmic glycogen, we observed numerous vacuolar structures in liver cells and a large deposition of nomogeneous materials between fragmented myocardial fibrils. These findin...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 1995
ISSN: 0148-639X,1097-4598
DOI: 10.1002/mus.880181414