Term Name:	aspartylglucosaminuria
Synonyms:	aspartylglucosaminidase deficiency, aspartylglycosaminuria, glycosylasparaginase deficiency
Definition:	A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
Ontology:	Human Disease [DOID:0050461]   ( DOID:0050461 )