Disease Information for Glycogen synthetase deficiency

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Clinical Manifestations
Signs & Symptoms
Fasting intolerant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/adult
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Adult/all
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Diagnostic Test Results
Pathology
BX/Liver biopsy/Fatty change in liver tissue
Associated Diseases & Rule outs
Associated Disease & Complications
Fatty liver
Hypoglycemia
Starvation ketosis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Glycogen metabolic defects (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
deficiency, Glycogen (Starch) Synthase, Glycogen (starch) synthase (substance), GLYCOGEN STARCH SYNTHASE, glycogen synthase, Glycogen Synthetase, Synthase Glycogen, Synthetase Glycogen, UDP Glucose Glycogen Glucosyl Transferase, UDPglucose glycogen 4 alpha D glucosyltransferase, UDPglucose glycogen glucosyltransferase, Synonym/GSD 0/Glycogen storage/Glycogen synthetase
Definition
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External Links Related to Glycogen synthetase deficiency
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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