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.
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Orphanet article Orphanet ID 2195 |
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OMIM.ORG article Omim 222730 |
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Wikipedia article Wikipedia EN (Dicarboxylic_aminoaciduria) |