Concept information
Preferred term
Glycogen Storage Disease Type III
Type
-
mesh:Descriptor
Definition
- An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
Broader concept
Entry terms
- Amylo-1,6-Glucosidase Deficiency
- Cori Disease
- Cori's Disease
- Debrancher Deficiency
- Deficiency, Debrancher
- Forbes Disease
- Glycogen Debrancher Deficiency
- Glycogen Debranching Enzyme Deficiency
- Glycogenosis 3
- Glycogen Storage Disease III
- Glycogen Storage Disease Type 3
- Limit Dextrinosis
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Déficit en amylo-1,6-glucosidase
-
Déficit en enzyme débranchante
-
Dextrinose limite
-
Glycogénose de Forbes-Cori
-
Glycogénose de type 3
-
Glycogénose de type III musculaire
-
Glycogénose type III de Cori
-
Maladie de Cori
-
Maladie de Forbes
URI
http://data.loterre.fr/ark:/67375/JVR-XWWC98LX-N
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