Disease Information for Forbes disease (Cori disease, III)

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Clinical Manifestations
Signs & Symptoms
Fasting intolerant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Liver disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Lactic acid/Lactate (Lab)
pH, arterial blood (Lab)
Diagnostic Test Results
Pathology
BX/Liver biopsy/Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Alkalosis
Hypoglycemia
Hypoglycemia, infantile
Kidney stone/Nephrolithiasis/Urolithiasis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Liver involvement/disorder (ex)
CLASS/Liver/gallbladder/ducts (category)
Pathophysiology
Pathophysiology/Amylo 1,6 glucosidase/debrancher def
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Debrancher glycogen enzyme defect
Pathophysiology/Gene locus 1p21
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Glycogen metabolic defects (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
Amylo 1,6 glucosidase defici, amylo 1,6 glucosidase deficiency, CORI DIS, CORI DISEASE, CORI DISEASE TYPE III, CORIS DIS, Coris Disease, Cori's disease, DEBRANCHER DEFIC, Debrancher Deficiencies, debrancher deficiency, Debrancher deficiency glycogen storage disease, Debrancher enzyme deficiency, debrancher glycogen storage disease, DEFIC DEBRANCHER, Deficiencies Debrancher, Deficiency Debrancher, deficiency debrancher enzyme, Deficiency of 6 alpha D glucosidase, Deficiency of amylo 1,6 glucosidase, Deficiency of amylo 1,6 glucosidase (disorder), Deficiency of debranching enzyme, Deficiency of dextrin, Dextrinoses Limit, Dextrinosis Limit, Disease Cori, Disease Cori's, Disease Forbes, Forbes, FORBES DIS, FORBES DISEASE, Forbes' disease, GLYCOGEN DEBRANCHING ENZYME DEFIC, Glycogen Debranching Enzyme Deficiency, GLYCOGEN STORAGE DIS III, Glycogen storage disease III, GLYCOGEN STORAGE DISEASE TYPE III, Glycogen storage disease type III (disorder), GLYCOGENOSIS 03, Glycogenosis 3, glycogenosis type III, GSD III, Limit dextrin glycogen, Limit Dextrinoses, limit dextrinosis, Synonym/Cori's disease (type III), Synonym/Debrancher glycogenosis (type 3), Synonym/Glycogenosis type III, Synonym/GSD III/Glycogen storage disease III, Synonym/Limit dextrinosis, Synonym/Limit dextrinosis(Cori type 3 disease), Synonym/Type 3 glycogenosis
Definition

Forbes Disease; Amylo-1,6-Glucosidase Deficiency; Cori Disease; Debrancher Deficiency; Glycogen Storage Disease III; Glycogenosis Type III; Limit Dextrinosis ;

Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits; Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme); This enzyme deficiency causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart; There are two forms of this disorder. GSD-IIIA affects about 85% of patients with Forbes disease and involves both the liver and the muscles; GSD-IIIB affects only the liver;[NORD 2005]------------------------------------------------------

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External Links Related to Forbes disease (Cori disease, III)
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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