Dicarboxylic aminoaciduria

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Disease Overview

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.[4558][4559] Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.[4559]


Synonyms

  • Glutamate-aspartate transport defect
  • Dicarboxylicaminoaciduria

For more information, visit GARD.

National Organization for Rare Disorders