Dicarboxylic Aminoaciduria

Overview

Type of disease: Rare conditions

Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases.  Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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