Glycogen Storage Disease Type IV [glykogenóza typu IV]
- Terms
-
Andersenova nemoc
deficit alfa-1-4-glukan-6-alfa-glukozyltransferázy
deficit větvícího enzymu
glykogen - nemoc z ukládání typ IV
glykogenóza IV
glykogenóza typ IV
nemoc Andersenové
-
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
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.
- Annotation
- do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
- DUI
- D006011 MeSH Browser
- CUI
- M0009472
- Previous indexing
- Glycogenosis (1966-1974); Liver Diseases (1966-1974); Glucosyltransferases/metabolism (1966-1974)
- History note
- 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988
- Public note
- 1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 see GLYCOGENOSIS 1975-1988
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 1
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology
Cirrhosis, familial, with deposition of abnormal glycogen Disease MeSH Browser
GSD IV, Classic Hepatic Disease MeSH Browser
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy Disease MeSH Browser
GSD IV, Neuromuscular Form, Childhood Disease MeSH Browser
GSD IV, Neuromuscular Form, Congenital Disease MeSH Browser
GSD IV, Neuromuscular Form, Fatal Perinatal Disease MeSH Browser
GSD IV, Nonprogressive Hepatic Disease MeSH Browser