glycogen storage disease

(redirected from Glycogen storage diseases)
Also found in: Medical, Encyclopedia.

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.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
Mentioned in ?
References in periodicals archive ?
Glycogen storage diseases in animals and their potential value as models of human disease.
Glycogen storage diseases: A brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment.
In mitochondrial diseases (14,15) and glycogen storage diseases, DM is due to impaired [beta] cell function arising from non-production of ATP (16).
It will concentrate on the delivery of muscle-protein fusions, and treatment of multiple indications, in the fields of muscular dystrophies, glycogen storage diseases, myopathies and enzyme-deficiency disorders.
OF CASES PERCENTAGE Glycogen storage diseases 23 70% Gaucher's disease 5 15% Niemann-picks disease 5 15% Table 8: Inborn errors of metabolism with examples Metabolic Disorder Examples Disorders of protein Aminoacidopathies, metabolism Organic acidopathies, Urea cycle defects Disorders of Carbohydrate carbohydrate intolerance metabolism disorders, Glycogen Storage Disorders, Disorders of Gluconeogenesis and Glycogenolysis.
(8.) Chen YT Glycogen storage diseases. In: Scriver C, Beaudet A, Sly W, Valle D, Childs B, KinzlerKW, Vogelstein B, (eds).
His translational research leads to the development of now standard therapies for two devastating inherited metabolic diseases: a simple and effective cornstarch therapy for severe hypoglycemia in glycogen storage diseases and an enzyme replacement therapy, the first ever treatment, for a debilitating, progressive and often fatal myopathy called Pompe disease.
Glycogen storage diseases alone formed 24% of the total evaluated cases, all of them presenting with hepatomegaly.
Broad categories include MPS, [GM.sub.2] gangliosidoses, neutral glycosphingolipidoses, glycoproteinoses, mucolipidoses, leukodystrophies, glycogen storage diseases, disorders of neutral lipids, and disorders of protein transport or trafficking (22, 23).
The other glycogen storage diseases that present a normal glycogen structure are (1-4):
Included are chapters on nonalcoholic fatty liver disease, the most prevalent disorder of the liver in developed countries; the hepatitis C virus and diabetes mellitus association; hereditary hemochromatosis; the role of iron toxicity in chronic liver diseases; Wilson disease; Gaucher disease; genetic alpha1- antitrypsin deficiency; glycogen storage diseases; and liver transplantation for metabolic disease.

Full browser ?