About 5 results

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 ...

Early initiation of enzyme replacement therapy improves metabolic correction in the bra...
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...

see more →