Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite levels in urine. The main symptoms of aspartylglucosaminuria are progressive mental retardation, coarse faces, behavioral, and hepatosplenomegaly.
