aspartylglucosaminuria

Epidemiology

• overrepresented in the Finnish population

Pathology

• lysosomal storage disease
• mild connective tissue abnormalities

Genetics

• recessive
• associated with defects in the aspartylglucosaminidase (AGA) gene

Clinical manifestations

• mild to severe mental retardation manifesting from age 2
• coarse facial features

Laboratory

• aspartylglucosaminidase in fibroblasts
• aspartylglucosaminidase in leukocytes

More general terms

• carbohydrate inborn error of metabolism
• lysosomal storage disease

Database

• OMIM: https://mirror.omim.org/entry/208400