Skip navigation

Disease Aspartylglucosaminuria

Name Aspartylglucosaminuria
Synonyms AGA Deficiencies | AGA Deficiency | AGU | Aspartylglucosamidase Deficiencies | Aspartylglucosamidase Deficiency | ASPARTYLGLUCOSAMINIDASE DEFICIENCY | Aspartylglucosaminurias | Aspartylglycosaminuria | Aspartylglycosaminurias | Deficiencies, AGA | Deficiencies, Aspartylglucosamidase | Deficiency, AGA | Deficiency, Aspartylglucosamidase | Glycoasparaginase | Glycoasparaginases | GLYCOSYLASPARAGINASE DEFICIENCY
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D054880
OMIM® ID 208400
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Aspartylglucosaminuria Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Aspartylglucosaminuria Has associated chemicals Has associated genes

Top ↑ Descendants

Aspartylglucosaminuria Has associated chemicals Has associated genes
  Aspartylglucosamidase (AGA) deficiency