| Descriptor English: | Aspartylglucosaminuria | ||||||
| Descriptor Spanish: |
Aspartilglucosaminuria
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| 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 |
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| Tree number(s): |
C16.320.565.595.100 C18.452.648.595.100 |
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| 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. |
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| 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 |
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| Previous Indexing: |
Aspartylglucosylaminase (1975-2008) |
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| Public MeSH Note: | 2009 |
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| History Note: | 2009 |
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| 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 |
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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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