Other Names for this Disease
- Aspartylglucosamidase (AGA) deficiency
- AGA deficiency
- Glycosylasparaginase deficiency
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.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
Last updated: 8/17/2011
- 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.
- Aspartylglycosaminuria . National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/918/viewAbstract. Accessed 8/17/2011.
- Aspartylglucosaminuria. Genetics Home Reference. December 2008; http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria. Accessed 8/17/2011.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Aspartylglycosaminuria. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.