glycogen storage disease

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glycogen storage disease

n.
Any of various genetic diseases caused by deficiency of one of the enzymes involved in breaking down or synthesizing glycogen, resulting in storage of abnormal amounts or types of glycogen and often affecting the liver, muscles, or both. Also called glycogenosis.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
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Frequency of glycogen storage disease type II in the Netherlands: Implications for diagnosis and genetic counselling.
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. Arch Iran Med.
Hermans et al., "Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling," European Journal of Human Genetics, vol.
Sandri, "Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients," Autophagy, vol.
Effective enzyme replacement therapy is available for Pompe disease [also known as glycogen storage disease type II, caused by acid [alpha]-glucosidase (GAA) deficiency], Fabry disease [[alpha]-galactosidase (GLA) deficiency], Hurler syndrome (mucopolysaccharidosis type I, [alpha]-iduronidase deficiency), Hunter disease (mucopolysaccharidosis type II, iduronate-2-sulfatase deficiency), Maroteaux-Lamy disease (mucopolysaccharidosis type VI, [alpha]-acetylgalactosamine 4-sulfatase deficiency), and Gaucher disease (glucocerebrosidase deficiency) (5, 6).
Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

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