Dicarboxylic aminoaciduria
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.
References:
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[1]. Charles G Bailey, et al. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan;121(1):446-53. [Content Brief]
[2]. Stefan Bröer, et al. Amino acid transport across mammalian intestinal and renal epithelia. Physiol Rev. 2008 Jan;88(1):249-86. [Content Brief]
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