dicarboxylicamino aciduria; glutamate-aspartate transport defect

Pathology

• defect in renal & probably intestinal transport of glutamic & aspartic acids

Genetics

• associated with defects in SLC1A1

Laboratory

• serum proline, moderate hyperprolinemia
• urinalysis
  • urine aspartate, urine glutamate
    • aspartate aciduria & glutamate aciduria

More general terms

• aciduria
• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/222730