Aspartylglucosaminuria

**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.

**Tree numbers:** - C16.320.565.595.100 - C18.452.648.595.100

**Synonyms:** - Aspartylglycosaminuria - Aspartylglucosamidase Deficiency - AGA Deficiency - Glycoasparaginase Deficiency