منابع مشابه
Acid 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 کاملGlycogenosis 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 کاملRespiratory failure as initial symptom of acid maltase deficiency.
Nine patients with adult onset acid maltase deficiency were seen at the Nijmegen University Hospital and the St Elisabeth Hospital, Tilburg , during the period 1970-1982. Five of these patients developed respiratory failure, and in four this was the initial symptom. The occurrence of respiratory failure as an early symptom of this muscular disease is discussed.
متن کامل[Lysosomal glycogen storage disease without acid maltase deficiency].
Lysosomal glycogen storage disease without acid maltase deficiency is characterized by the triad of clinical manifestations (hypertrophic cardiomyopathy), mental retardation, and mild myopathy), morphologic findings (glycogen storage, glycogenosomes, and autophagic vacuoles), and normal glycolytic enzyme activities. Though most of the patients suffering from the triad were males, family studies...
متن کاملGenotype-phenotype correlation in adult-onset acid maltase deficiency.
We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(-13T --> G) transversion on one allele; the second allele harbored either a deletion of a T at position 525 in exon 2 (7 probands, 64%) or a deletion of exon 18 (1 proband, 9%). Deterioration of handicap w...
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ژورنال
عنوان ژورنال: Journal of Internal Medicine
سال: 2005
ISSN: 0954-6820,1365-2796
DOI: 10.1111/j.1365-2796.2005.01515.x