Dicarboxylic Aminoaciduria

Dicarboxylic aminoaciduria is a rare disorder of autosomal recessive inheritance [1]. It is characterized by highly elevated amounts of glutamate and aspartate in the urine. In several reported cases the clearance exceeded the glomerular filtration rate, indicating active secretion of glutamate [2]. Glutamate levels are usually significantly higher than aspartate levels, reflecting their relative concentration in blood plasma. Newborn urine screening programs suggest that dicarboxylic aminoaciduria is a benign condition [3]. A few cases with mental retardation have been reported, however, in these cases the aminoaciduria was detected retrospectively. Dicarboxylic aminoaciduria is often accompanied by hyperprolinemia.