Dicarboxylic aminoaciduria

What is Dicarboxylic aminoaciduria?

A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.

Other condition names

  • Glutamate-aspartate transport defect

Age of Onset

  • Infancy
  • Neonatal
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