Aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is an inherited disease characterized by progressive intellectual and developmental disabilities and skin, bone, and joint issues. It is caused by defects in the enzyme aspartylglucosaminidase, which is needed to properly break down certain sugars (oligosaccharides) that are attached to specific proteins (glycoproteins). Symptoms associated with aspartylglucosaminuria are attributed to the toxic build-up of glycoproteins in cells, particularly in cells of the central nervous system, leading to progressive destruction of nerve cells in the brain. View testing options