Aspartylglucosaminuria
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.
Year introduced: 2009
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Subheadings:
Tree Number(s): C16.320.565.595.100, C18.452.648.595.100
MeSH Unique ID: D054880
Entry Terms:
- Aspartylglucosaminurias
- Glycoasparaginase Deficiency
- Deficiencies, Glycoasparaginase
- Deficiency, Glycoasparaginase
- Glycoasparaginase Deficiencies
- AGA Deficiency
- AGA Deficiencies
- Deficiencies, AGA
- Deficiency, AGA
- Aspartylglycosaminuria
- Aspartylglycosaminurias
- Aspartylglucosamidase Deficiency
- Aspartylglucosamidase Deficiencies
- Deficiencies, Aspartylglucosamidase
- Deficiency, Aspartylglucosamidase
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