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Glycogen Storage Disease Type IV MeSH Descriptor Data 2022


MeSH Heading
Glycogen Storage Disease Type IV
Tree Number(s)
C16.320.565.202.449.540
C18.452.648.202.449.540
Unique ID
D006011
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D006011
Annotation
do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
Scope Note
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
Entry Version
GLYCOGEN STORAGE DIS IV
Entry Term(s)
Amylopectinosis
Andersen Disease
Andersen's Disease
Brancher Deficiency
Deficiency, Brancher
Gbe1 Deficiency
Glycogen Branching Enzyme Deficiency
Glycogen Storage Disease Type 4
Glycogenosis 4
Glycogenosis IV
Type IV Glycogenosis
Previous Indexing
Glucosyltransferases/metabolism (1966-1974)
Glycogenosis (1966-1974)
Liver Diseases (1966-1974)
Public MeSH Note
1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 see GLYCOGENOSIS 1975-1988
History Note
1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988
Date Established
1991/01/01
Date of Entry
1974/12/12
Revision Date
2012/07/03
Glycogen Storage Disease Type IV Preferred
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