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 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 0
- 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 0
- GE
- genetics 0
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 0
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 0
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
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Occurrences in Medvik records