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Aspartylglucosaminuria MeSH Descriptor Data 2024


MeSH Heading
Aspartylglucosaminuria
Tree Number(s)
C16.320.565.595.100
C18.452.648.595.100
Unique ID
D054880
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054880
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.
Entry Term(s)
AGA Deficiency
Aspartylglucosamidase Deficiency
Aspartylglycosaminuria
Glycoasparaginase Deficiency
Previous Indexing
Aspartylglucosylaminase (1975-2008)
Public MeSH Note
2009
History Note
2009
Date Established
2009/01/01
Date of Entry
2008/07/08
Revision Date
2018/06/14
Aspartylglucosaminuria Preferred
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