Glycogen Storage Disease Type III [glykogenóza typu III]
- Terms
-
Coriho nemoc
deficit amylo-1,6-glukosidázy
deficit debranching enzymu
Forbesova nemoc
glykogen - nemoc z ukládání typ III
glykogenóza III
glykogenóza typ III
limitovaná dextrinóza
nedostatek debranching enzymu
-
Amylo-1,6-Glucosidase Deficiency
Cori Disease
Cori's Disease
Debrancher Deficiency
Deficiency, Debrancher
Forbes Disease
Glycogen Debrancher Deficiency
Glycogen Debranching Enzyme Deficiency
Glycogen Storage Disease III
Glycogen Storage Disease Type 3
Glycogenosis 3
Limit Dextrinosis
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.
- Annotation
- do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
- DUI
- D006010 MeSH Browser
- CUI
- M0009471
- Previous indexing
- Glucosidases/metabolism (1966-1974); Glycogenosis (1966-1974); Liver Diseases (1966-1974)
- History note
- 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 use GLYCOGENOSIS 1975-1988
- Public note
- 1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 see GLYCOGENOSIS 1975-1988
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 2
- DI
- diagnosis 2
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 2
- GE
- genetics 2
- HI
- history 1
- IM
- immunology 0
- ME
- metabolism 1
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 3
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 2
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0