ALLMedicine™ Aspartylglycosaminuria Center
Research & Reviews 2 results
Aug 17th, 2011 - Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major ...
Journal of Inherited Metabolic Disease; Dunder U, Valtonen P et. al.
Jul 8th, 2010 - Aspartylglycosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and mental retardation. Enzyme replacement therapy (ERT) in adult AGU mice with AGA removes the accu...