Families

Dicarboxylic aminoaciduria due to loss of SLC1A1is a genetic disorder that is characterized by excessive loss of certain amino acids in the urine. Normally, only negligible amounts of amino acids are present in the urine due to their efficient reabsorption in the kidney. If SLC1A1is absent, the resulting defect in the reabsorption machinery in the kidney can lead to excessive loss of amino acids in the urine. This could lead to problems with nutrition or development of kidney stones. Treatment is usually based upon specific symptoms. Dicarboxylic aminoaciduria has an estimated prevalence of about 1 in 35,000 births.