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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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Overview



What is dicarboxylic aminoaciduria?

What are the signs and symptoms of dicarboxylic aminoaciduria?


What is dicarboxylic aminoaciduria?

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.[1][2] Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.[2]
Last updated: 10/25/2011

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.[3][2] Others that have been diagnosed had virtually no signs or symptoms.[2]
Last updated: 10/24/2011

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