OnlineIMD

1.2        Organic acidurias

  • Type
    Group
  • External link(s)
    • Orphanet
  • Disease group(s)
    • 1        Disorders of amino acid metabolism
  • Child entries
    • Propionic aciduria
    • D-2-hydroxyglutaric aciduria type 1
    • Malonic aciduria
    • Biotinidase deficiency
    • Isovaleric aciduria
    • 2-Aminoadipic 2-oxoadipic aciduria
    • L-2-hydroxyglutaric aciduria
    • Holocarboxylase synthetase deficiency
    • Methylmalonic aciduria

    • Methylmalonic aciduria, classical

    • Combined malonic and methylmalonic aciduria
    • Glutaric aciduria type 1
    • MCEE-related methylmalonic aciduria
    • Glutaric aciduria type 3
    • 3-Methylcrotonyl-CoA carboxylase deficiency
    • HSD10 disease
    • Methylglutaconic aciduria
    • 3-methylglutaconic aciduria type 1
    • Glutaric aciduria
    • Ethylmalonic aciduria
    • 2-Hydroxyglutaric aciduria
    • ECHS1 deficiency
    • 3-hydroxyisobutyryl-CoA hydrolase deficiency
    • 3-hydroxyisobutyrate dehydrogenase deficiency
    • Organic acidurias of uncertain clinical relevance
    • Isobutyryl-CoA dehydrogenase deficiency
    • 2-Methylbutyryl-CoA dehydrogenase deficiency
    • Methylmalonate semialdehyde dehydrogenase deficiency