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.
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  
References in periodicals archive ?
Lucas, "Dental disease indices and caries-related microflora in children with glycogen storage disease," International Journal of Paediatric Dentistry, vol.
Wokke, "A diagnostic protocol for adult-onset glycogen storage disease type II," Neurology, vol.
Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis.
Glycogen storage disease type 1 is a severe autosomal recessive metabolic disease which affects carbonhydrate and purin metabolism.
He was remitted at 8 years of age to the Biochemistry unit due to family history of glycogen storage disease (first case).
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis.
This condition is characterized as glycogen storage disease. Excessive glycogen commonly is seen in the livers of patients with these diseases, so CT often is used for diagnosis.[11] The appearance of this disease varies considerably.
Type I Glycogen Storage Disease is a deficiency of the enzyme glucose -6 - phosphatase which helps in maintaining a normal blood glucose (sugar concentration) during fasting.
To the Editor: Glycogen storage disease (GSD) is a group of inherited disorders with abnormal glycogen deposition.[1] Pulmonary hypertension (PH) is a rare complication of GSD with unclear etiology.
McArdle disease (glycogen storage disease type V, GSDV) is a metabolic myopathy caused by homozygous or compound heterozygous mutations in PYGM.
United States-based Viking Therapeutics has demonstrated an encouraging effect in the preliminary results from a proof-of-concept study assessing the company's VK2809 in an in vivo model of a rare orphan disorder named glycogen storage disease Ia (GSD 1a), it was reported on Friday.
Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

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