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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]
References
- Froissart R & Maire I. Aspartylglucosaminuria. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93. Accessed August 17, 2011.
- Aspartylglycosaminuria . National Organization for Rare Disorders (NORD). http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/918/viewAbstract. Accessed August 17, 2011.
- Aspartylglucosaminuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/aspartylglucosaminuria. Accessed August 17, 2011.
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On this page
General Information
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on Aspartylglycosaminuria. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aspartylglycosaminuria. Click on the link to go to OMIM and review these resources.