glycogen storage disease

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glycogen storage disease

[′glī·kə·jən ′stȯr·ij di‚zēz]
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Cardiac rhabdomyoma is characterized by large glycogen containing vacuolated cells and is also referred to as rhabdomyomatosis, congenital glycogen tumor, circumscribed glycogen storage disease, nodular glycogen degeneration, nodular glycogen, and nodular glycogen infiltration (KIZAWA et al., 2002).
Viral hepatitis (61, 40.67%) was the commonest cause of the liver disease followed by glycogen storage disease (11, 7.33%) and Wilson's disease in 13 (8.6%).
Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.
A final diagnosis was made based on the confirmatory investigations as 70% (23 cases) being glycogen storage disease, 15% (5 cases) being Gaucher's disease and the other 15% (5 cases) being Niemann-Pick's disease.
Glycogen storage disease type 1 (GDH 1) is a metabolic disease which occurs as a result of dysfunction in glucose 6 phosphatase (G6Paz) system.
Autoimmune hepatitis formed 19% of the diagnosis above two years of age, second only to glycogen storage disease. One five year old boy had Sickle thalassemia, cholestasis, the liver histology showed a picture of chronic immune hepatitis.
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
* Within the innate errors of metabolism, glycogen storage diseases are infrequent and, as with all of them, these should be considered in patients with unusual symptomatology.
Liver injury that results in cirrhosis also may be caused by a number of inherited diseases such as cystic fibrosis, alpha-1 antitrypsin deficiency, hemochromatosis, Wilson's disease, galactosemia, and glycogen storage diseases.
* congenital or inherited conditions glycogen storage diseases -- inability to properly utilize sugars alpha 1 antitrypsin deficiency -- inherited absence of a specific enzyme in the liver
Glycogen storage diseases (GSDs) are an inherited group of disorder of carbohydrate metabolism resulting in storage of glycogen in different parts of the body especially liver and muscles with varied clinical presentation1.

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