- Concept UI
- M0508590
- Scope Note
- 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.
- Terms
-
Aspartylglucosaminuria
Preferred Term
Term UI
T710290
Date11/29/2007
LexicalTag
NON
ThesaurusID
-
Aspartylglycosaminuria
Term UI
T695228
Date04/09/2007
LexicalTag
NON
ThesaurusID
-
Aspartylglucosamidase Deficiency
Term UI
T840926
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
AGA Deficiency
Term UI
T843519
Date05/02/2013
LexicalTag
ABX
ThesaurusID
GHR (2014)
-
Glycoasparaginase Deficiency
Term UI
T000942663
Date05/04/2018
LexicalTag
NON
ThesaurusID
NLM (2019)