glycogen storage disease

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glycogen

 [gli´ko-jen]
a polysaccharide that is the chief carbohydrate storage material in animals, being converted to glucose by depolymerization; it is formed by and largely stored in the liver, and to a lesser extent in muscles, and is liberated as needed.
glycogen disease glycogen storage disease.
glycogen storage disease any of a group of genetically determined disorders of glycogen metabolism, marked by abnormal storage of glycogen in the body tissues. Type I is called gierke's disease; type II is called pompe's disease; type III is called forbes' disease; type IV is called amylopectinosis; type V is called mcardle disease; and type VI is called hers' disease. In type VII, a deficiency in phosphofructokinase affects muscle and erythrocytes, with temporary weakness and cramping of skeletal muscle after exercise. In type VIII, the enzyme deficiency is unknown, but the liver and brain are affected, with hepatomegaly, truncal ataxia, and nystagmus; the neurologic deterioration progresses to hypertonia, spasticity, and death. In type IX, a deficiency in liver phosphorylase kinase results in marked hepatomegaly, which may disappear in early adulthood. In type X, a lack of activity of cyclic AMP–dependent kinase affects the liver and muscle, with mild clinical symptoms. Called also glycogen disease and glycogenosis.

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.

glycogen storage disease

Etymology: Gk, glykys + genein + L, instaurare, to renew, dis, opposite of; Fr, aise, ease
any of a group of inherited disorders of glycogen metabolism. An enzyme deficiency or defect in glycogen transport causes glycogen to accumulate in abnormally large amounts in various parts of the body. Biopsy and chemical analysis reveal the missing enzyme. Also called glycogenosis.

glycogen storage disease, type Ia


glycogen storage disease, type Ib

a form of glycogen storage disease in which excessive amounts of glycogen are deposited in the liver and leukocytes. Some symptoms are similar to, but less severe than, those of glycogen storage disease, type Ia (von Gierke's disease). Additional symptoms include neutropenia and recurrent GI inflammatory disease. Biopsy of the affected organs reveals the absence of glucose-6-phosphatase translocase, an enzyme necessary for glycogen metabolism.

glycogen storage disease, type II


glycogen storage disease, type III


glycogen storage disease, type IV


glycogen storage disease, type V


glycogen storage disease, type VI


glycogen storage disease, type VII

A clinically benign autosomal recessive [MIM 232700] metabolic disorder caused by a deficit of glycogen phosphorylase [EC 2.4.1.1] encoded on 14q21-q22

glycogen storage disease

Glycogenosis Any of a group of 12 inherited AR defects in the ability to store and/or retrieve glucose from intracellular depots, resulting in accumulation of glycogen in liver, muscle, heart, kidney, and other tissues enzyme defects, and hepatosplenomegaly, cardiomegaly, mental retardation–eg, dancing eyes syndrome–GSD VIII
Glycogen storage disease
Type  Deficient enzyme
0 Hepatic glycogen synthetase
I Glucose-6-phosphatase
II Lysosomal acid maltase alpha-1,4 glucosidase
III Amylo-1,6 glucosidase ('debrancher' disease)
IV Amylo-1,4-1,6-trans-glucosidase–'brancher' disease
V  Myophosphorylase
VI Hepatic phosphorylase
VII Phosphofructokinase
VIII Inactive hepatic phosphorylase  

glycogen storage disease

any of a group of genetically determined disorders of glycogen metabolism, marked by abnormal storage of glycogen in the body tissues. Includes Pompe's disease, Cori's disease, phosphofructokinase deficiency. See also glycogenosis.
References in periodicals archive ?
NWU Type III will be issued to new accessions and recruits beginning Oct.
In this system, type I describes an oblique fracture of the tip of the dens, type II is a fracture at the junction of the dens and the central body of the axis, and type III is a fracture in which the fracture line extends downward into the cancellous portion of the body of the axis [1].
max] in cement type I were approximately 40 [degrees]C and 14 to 16 hours, respectively, and in cement type III approximate 60 [degrees]C and 11 to 13 hours, respectively.
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The Act also imposes the excess business holding rules of IRC Section 4943 on Type III SOs.
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In addition to evaluating the energy loss performance of the Type III stilling basin, the study also evaluated a SAF basin and a flip bucket.
The SUT is expected to qualify as a Type III ZEV in California.
Tenders are invited for Balance work for construction of 10 unit type ii(d/s), 4 unit type iii (d/s) and 1 unit type v (s/s)
Our case is further remarkable because it is the first report of such an occurrence in a patient with familial type III hyperlipoproteinemia.
Familial type III hyperlipoproteinemia (HLP) is characterized by the accumulation of cholesterol-rich remnants ([Beta]-VLDL).

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