Aspartylglucosaminuria (AGU)

Aspartylglucosaminuria, also known as aspartylglucosaminidase deficiency, is related to neuronal ceroid-lipofuscinoses and angiokeratoma, and has symptoms including diarrhea, hoarseness and muscle spasticity. An important gene associated with Aspartylglucosaminuria is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Metabolism and Ethanol effects on histone modifications. The drugs Benzocaine and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are intellectual disability and scoliosis