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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
General
carbohydrate inborn error of metabolism
lysosomal storage disease
Database Correlations
OMIM 208400
References
OMIM :accession 208400