Other Names for this Disease
- Glutamate-aspartate transport defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
 Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases.
Last updated: 10/25/2011
- Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: Clinical and molecular aspects. Kidney Int. 2008 Apr;73(8):918-25.; http://www.ncbi.nlm.nih.gov/pubmed/18200002. Accessed 10/21/2011.
- Bailey CG et al.,. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan 4;121(1):446-53; http://www.ncbi.nlm.nih.gov/pubmed/21123949. Accessed 10/21/2011.
On this page
- 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 Dicarboxylic aminoaciduria. Click on the link to view a sample search on this topic.