aspartylglucosaminuria

Term ID

DOID:0050461

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. https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria

References

• GARD:5854
• ICD10CM:E77.1
• MESH:D054880
• NCI:C61273
• OMIM:208400
• SNOMEDCT_US_2023_03_01:54954004
• UMLS_CUI:C0268225

Ontology

Human Disease   ( DOID:0050461 )