Search on: ASPARTYLGLUCOSAMINURIA 
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Descriptor English:   Aspartylglucosaminuria 
Descriptor Spanish:   Aspartilglucosaminuria 
Descriptor Portuguese:   Aspartilglucosaminúria 
Synonyms English:   AGA Deficiency
Aspartylglucosamidase Deficiency
Aspartylglycosaminuria
Glycoasparaginase
AGA Deficiencies
Aspartylglucosamidase Deficiencies
Aspartylglucosaminurias
Aspartylglycosaminurias
Deficiencies, AGA
Deficiencies, Aspartylglucosamidase
Deficiency, AGA
Deficiency, Aspartylglucosamidase
Glycoasparaginases  
Tree Number:   C16.320.565.595.100
C18.452.648.595.100
Definition English:   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. 
History Note English:   2009 
Allowable Qualifiers English:  
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
Record Number:   53102 
Unique Identifier:   D054880 

Occurrence in VHL:
 
MEDLINE    

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