aspartylglucosaminuria (DOID:0050461)
Alliance: disease page
Synonyms: aspartylglucosaminidase deficiency; aspartylglycosaminuria; glycosylasparaginase deficiency
Alt IDs: OMIM:208400, ICD10CM:E77.1, MESH:D054880, NCI:C61273, UMLS_CUI:C0268225
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.