LSDDB

Aspartylglucosaminuria

This disease is caused by deficient activity of enzyme glycosylasparginase (AGA). Deficiency in this enzyme activity leads to the accumulation of glycoaspargines like aspartylglucosamine and other glycoaspargines with aspargine groups. The gene encoding the enzyme, AUA is located at 4q34.3 (Arvio and Mononen, 2016).

Reference :
Arvio, M. and Mononen, I. (2016) ‘Aspartylglycosaminuria: a review’, Orphanet Journal of Rare Diseases, 11. doi: 10.1186/s13023-016-0544-6.