Aspartylglucosaminuria [aspartylglukosaminurie]
topical
- Terms
-
aspartylglukózaminurie
deficit aktivity aspartylglukózaminidázy
-
AGA Deficiency
Aspartylglucosamidase Deficiency
Aspartylglycosaminuria
Glycoasparaginase Deficiency
Persistent link
https://www.medvik.cz/link/D054880
Definition
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
- DUI
- D054880 MeSH Browser
- CUI
- M0508590
- Previous indexing
- Aspartylglucosylaminase (1975-2008)
- History note
- 2009
- Public note
- 2009
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis
- 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
...
Occurrences in Medvik records
Aspartylglucosamidase (AGA) deficiency Disease MeSH Browser