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NIH GARD Information: Aspartylglycosaminuria

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

  • Aspartylglucosaminuria
  • Aspartylglucosamidase (AGA) deficiency
  • AGU
  • AGA deficiency
  • Glycosylasparaginase deficiency

Overview

Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major symptoms may include coarse facial fea ...

For more information, visit GARD

Last Updated: 08/17/2011

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