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Descriptor English: Aspartylglucosaminuria
Descriptor Spanish: Aspartilglucosaminuria
Descriptor aspartilglucosaminuria
Entry term(s) aspartilglicosaminuria
aspartilglicosaminurias
deficiencia de AGA
deficiencias de AGA
deficiencias de aspartilglucosaminidasa
déficit de aspartilglucosaminidasa
déficit de glicoasparaginasa
Scope note: Enfermedad progresiva, de herencia recesiva, de depósito lisosómico causada por una deficiencia en la actividad de la ASPARTILGLUCOSILAMINASA. La falta de actividad de esta enzima da lugar a la acumulación de N-acetilglucosaminilasparagina en los LISOSOMAS. 
Descriptor Portuguese: Aspartilglucosaminúria
Descriptor French: Aspartylglucosaminurie
Entry term(s): AGA Deficiencies
AGA Deficiency
Aspartylglucosamidase Deficiencies
Aspartylglucosamidase Deficiency
Aspartylglucosaminurias
Aspartylglycosaminuria
Aspartylglycosaminurias
Deficiencies, AGA
Deficiencies, Aspartylglucosamidase
Deficiencies, Glycoasparaginase
Deficiency, AGA
Deficiency, Aspartylglucosamidase
Deficiency, Glycoasparaginase
Glycoasparaginase Deficiencies
Glycoasparaginase Deficiency
Tree number(s): C16.320.565.595.100
C18.452.648.595.100
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Aspartylglucosylaminase (1975-2008)
Public MeSH Note: 2009
History Note: 2009
DeCS ID: 53102
Unique ID: D054880
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2009/01/01
Date of Entry: 2008/07/08
Revision Date: 2018/06/14
Aspartylglucosaminuria - Preferred
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.
Preferred term Aspartylglucosaminuria
Entry term(s) AGA Deficiencies
AGA Deficiency
Aspartylglucosamidase Deficiencies
Aspartylglucosamidase Deficiency
Aspartylglucosaminurias
Aspartylglycosaminuria
Aspartylglycosaminurias
Deficiencies, AGA
Deficiencies, Aspartylglucosamidase
Deficiencies, Glycoasparaginase
Deficiency, AGA
Deficiency, Aspartylglucosamidase
Deficiency, Glycoasparaginase
Glycoasparaginase Deficiencies
Glycoasparaginase Deficiency



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