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 ?
We report a 2-year-old girl in Taiwan with clinical manifestations indicating type Ia GSD, which was diagnosed by the presence of 2 genetic mutations of the G6PC gene located in codons 83 and 272.
Considering the lightcurve in more detail, in the case of the initial brightening the rise in luminosity of a Type Ia SN has been shown by Reiss et al.
Certainly, we cannot use it to correctly figure out the measurements of distant type Ia supernovae with Z > 1.
Araoka T, Takeoka H, Abe H, Kishi S, Araki M, Nishioka K, Ikeda M, Mazaki T Ikemura S, Kondo M, Hoshina A, Nagai K, Mima A, Murakami T Mimura R, Oka K, Saito T Doi T Early diagnosis and treatment may prevent the development of complications in an adult patient with glycogen storage disease type Ia.
CDGS Type IA is the best described of the six known types.
It will also acquire DTX401 for the treatment of glycogen storage disease type Ia (GSDIa), which is designed to use the NAV AAV8 vector to deliver a copy of the glucose-6-phosphatase (G6Pase) gene to liver cells.
TEHRAN (FNA)- Astronomers have detected for the first time multiple images from a gravitationally lensed Type Ia supernova.
Among the topics are precision observational asteroseismology using Kepler spacecraft data, updates on the pulsating sdB star Feige 48 through spectroscopy, glimpses into the secret lives of hot subdwarf stars, tidally enhanced stellar wind in binaries as a second parameter for the horizontal branch morphology of globular clusters, hot subdwarf stars as the donors of type Ia supernova progenitors, and a radial velocity survey of hot subdwarfs with main sequence companions using the Hobby-Eberly telescope.
The proximity of SN2014J allowed the iPTF team to study this important class of stellar explosions, known as Type Ia supernovae, over a very wide wavelength range, starting just hours after the deduced explosion time.
4 solar masses this way, the star's entire bulk explodes in a carbon-fusion reaction as a Type Ia supernova.
Quickly identified as a young Type Ia SN, the brightest and most energetic kind of stellar explosion, and with the potential to be the brightest SN in nearly 20 years, the event attracted considerable media coverage and interest from amateur observers.
The measurements of type Ia supernovae to appear fainter and thus further away than expected have indicated that the universe turned its expansion from past deceleration to recent acceleration [1-4].