Aspartylglucosaminuria
MESHD054880
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.
Synonyms
- Aspartylglucosaminurias
- Aspartylglycosaminuria
- Aspartylglycosaminurias
- Aspartylglucosamidase Deficiency
- Aspartylglucosamidase Deficiencies
- Deficiencies, Aspartylglucosamidase
- Deficiency, Aspartylglucosamidase
- AGA Deficiency
- AGA Deficiencies
- Deficiencies, AGA
- Deficiency, AGA
- Glycoasparaginase Deficiency
- Deficiencies, Glycoasparaginase
- Deficiency, Glycoasparaginase
- Glycoasparaginase Deficiencies
Source last updated 2026-05-24T15:24:44.734Z