Definition:

Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. DA is generally considered to be a benign disorder, but cases with mental retardation have been reported as well. Homozygous loss-of-function mutations in SLC1A1 could be associated with DA.