OnlineIMD

Organic acidurias of uncertain clinical relevance

  • Type
    Phenotype
  • Associated genes
    Gene list
    • ACAD8 Isobutyryl-CoA dehydrogenase deficiency
    • ACADSB 2-Methylbutyryl-CoA dehydrogenase deficiency
    • ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency
  • Disease group(s)
    • 1.2        Organic acidurias