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Genetic and Rare Diseases Information Center (GARD)

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Aspartylglycosaminuria


Other Names for this Disease

  • AGA deficiency
  • AGU
  • Aspartylglucosamidase (AGA) deficiency
  • Aspartylglucosaminuria
  • Glycosylasparaginase deficiency
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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 features, spine and eye deformities, behavior problems, and intellectual disability.  Symptoms result from a deficiency in an enzyme called aspartylglycosaminidase, which leads to an accumulation of a protein called glycoasparagine in the body tissues and  increased excretion of this protein in the urine. Aspartylglycosaminuria is inherited in an autosomal recessive fashion and caused by mutations in the AGA gene. It is commonly seen in individuals of Finnish decent.[1][2][3]
Last updated: 8/17/2011

References

  1. Froissart R & Maire I. Aspartylglucosaminuria. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93. Accessed 8/17/2011.
  2. Aspartylglycosaminuria . National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/918/viewAbstract. Accessed 8/17/2011.
  3. Aspartylglucosaminuria. Genetics Home Reference. December 2008; http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria. Accessed 8/17/2011.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aspartylglycosaminuria. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AGA deficiency
  • AGU
  • Aspartylglucosamidase (AGA) deficiency
  • Aspartylglucosaminuria
  • Glycosylasparaginase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.