Dicarboxylic aminoaciduria is an autosomal recessive disorder, caused by mutations of the SLC1A1 gene which encodes the amino acid transporter for aspartate and glutamate. The impaired renal and enteral resorption results in an aminoaciduria of these two amino acids and a disposition for kidney stones.
Peghini P et. al. (1997) Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration.[^]
Bailey CG et. al. (2011) Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.[^]
Melançon SB et. al. (1977) Dicarboxylic aminoaciduria: an inborn error of amino acid conservation.[^]
Swarna M et. al. (1989) Dicarboxylic aminoaciduria associated with mental retardation.[^]
Teijema HL et. al. (1974) Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia.[^]