OnlineIMD

Dicarboxylic aminoaciduria

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
    • VMH
  • Gene
    • SLC1A1 / Solute Carrier Family 1 Member 1
      • 9p24.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Glutamate transporter
  • Disease group(s)
    • 1.11    Disorders of amino acid transport
  • Child entries
    • Hot water reflex epilepsy