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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
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
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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  
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Based on the concept of vulnerability of coronary vessel walls, we propose that the presence of defective type IV collagen represents a predisposing factor which when combined with localized shearing forces to the coronary wall produced by fluctuating and uncontrolled hypertension may lead to intimal tearing of the coronary arteries and the pathogenesis of SCAD in AS.
The gas flooding efficiency of Type IV advantageous reservoirs is 83.44%, and the gas flooding development mode is the optimal.
To investigate the levels of ET-1, VEGF, LN, and type IV collagen mRNA in LSECs, quantitative RT-PCR was performed.
In about five years, Type IV is expected to generate between $25 million-$30 million in revenue a year.
The differential diagnosis of type IV GSD includes Lafora disease, since the liver biopsy can show similar inclusions.
BioStratum has used the non-collagenous domain of type IV collagen to develop an anti-tumor agent called Angiocol.
After part of the liver has been removed, the remaining hepatocytes produce type IV collagen.
(2) defined SCCmec type IV as harboring ccrA/B type 4 in combination with characteristic loci, whereas Ito et al.
These strains possess a novel bfpA allele encoding the type IV pilin characteristic of typical enteropathogenic E.