Conditions / Genetic
aspartylglucosaminuria
info · Genetic · ICD-10: E77.1
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
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.
Signs and symptoms
- Reduced tissue aspartylglucosaminidase activity
- Thickened calvaria
- Short stature
- Anteverted nares
- Seizure
- Hypotonia
- Hepatomegaly
- Broad face
- Hernia
- Generalized hypotonia
Also known as: aspartylglucosaminidase deficiency; aspartylglycosaminuria; glycosylasparaginase deficiency