- Concept UI
- M0009471
- Scope Note
- 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.
- Terms
-
Glycogen Storage Disease Type III
Preferred Term
Term UI
T018270
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Cori Disease
Term UI
T018264
Date06/15/1984
LexicalTag
EPO
ThesaurusID
-
Cori's Disease
Term UI
T018265
Date12/11/1974
LexicalTag
EPO
ThesaurusID
-
Debrancher Deficiency
Term UI
T018267
Date12/11/1974
LexicalTag
NON
ThesaurusID
-
Deficiency, Debrancher
Term UI
T018266
Date12/11/1974
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Forbes Disease
Term UI
T018268
Date12/11/1974
LexicalTag
EPO
ThesaurusID
-
Amylo-1,6-Glucosidase Deficiency
Term UI
T811572
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Glycogen Debranching Enzyme Deficiency
Term UI
T018269
Date05/31/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Glycogen Storage Disease III
Term UI
T816107
Date01/17/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Glycogen Storage Disease Type 3
Term UI
T750081
Date04/27/2009
LexicalTag
NON
ThesaurusID
-
Glycogenosis 3
Term UI
T018271
Date05/31/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Limit Dextrinosis
Term UI
T018272
Date12/11/1974
LexicalTag
NON
ThesaurusID
-
Glycogen Debrancher Deficiency
Term UI
T750959
Date05/12/2009
LexicalTag
NON
ThesaurusID