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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
General
aciduria
amino acid inborn error of metabolism
Database Correlations
OMIM 222730
References
OMIM :accession 222730