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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Dicarboxylic aminoaciduria


Other Names for this Disease

  • Dicarboxylicaminoaciduria
  • Glutamate-aspartate transport defect
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Symptoms

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What are the signs and symptoms of dicarboxylic aminoaciduria?

There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases.[1][2] Others that have been diagnosed had virtually no signs or symptoms.[2]
Last updated: 10/24/2011

References
  1. Dicarboxylicamino aciduria. Online Mendelian Inheritance in Man. 2005; http://omim.org/entry/222730. Accessed 10/24/2011.
  2. 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.


Other Names for this Disease
  • Dicarboxylicaminoaciduria
  • 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.