|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Glycogen Storage Disease Type IV
|
|
Descriptor Spanish:
|
|
Enfermedad del Almacenamiento de Glucógeno Tipo IV
|
|
Descriptor Portuguese:
|
|
Doença de Depósito de Glicogênio Tipo IV
|
|
Synonyms English:
|
|
Amylopectinoses
Amylopectinosis
Andersen Disease
Andersen's Disease
Andersens Disease
Brancher Deficiencies
Brancher Deficiency
Deficiencies, Brancher
Deficiencies, Gbe1
Deficiency, Brancher
Deficiency, Gbe1
Disease, Andersen
Disease, Andersen's
Gbe1 Deficiencies
Gbe1 Deficiency
Glycogen Branching Enzyme Deficiency
Glycogen Storage Disease Type 4
Glycogenoses, Type IV
Glycogenosis 4
Glycogenosis 4s
Glycogenosis IV
Glycogenosis IVs
Glycogenosis, Type IV
Type IV Glycogenoses
Type IV Glycogenosis
|
|
Tree Number:
|
|
C16.320.565.202.449.540
C18.452.648.202.449.540
|
|
Definition English:
|
|
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. |
|
Indexing Annotation English:
|
|
do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
|
|
History Note English:
|
|
1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
24394
|
|
Unique Identifier:
|
|
D006011
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|