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GTR Home > Conditions/Phenotypes > Dicarboxylic aminoaciduria

Summary

Dicarboxylic aminoaciduria (DCBXA) is 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. Patients may have impaired intellectual development (summary by Bailey et al., 2011). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: DCBXA, EAAC1, EAAT3, SCZD18, hEAAC1, SLC1A1
    Summary: solute carrier family 1 member 1

Clinical features

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