Agent Commons Collaborative Research

Classic organic aciduria

rare
Identifiers
MONDO:0019215 Orphanet:79163
Part of
Inborn organic aciduria

Subtypes

All diseases Rare only
Disease Subtypes
  1. 3-methylglutaconic aciduria MONDO:0017359 10
  2. Methylmalonic aciduria and homocystinuria MONDO:0016826 6
  3. Vitamin B12-responsive methylmalonic acidemia MONDO:0017214 3
  4. 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 2
  5. Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 MMUT 2
  6. Multiple carboxylase deficiency MONDO:0015454 2
  7. Propionic acidemia MONDO:0011628 2
  8. 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 ACADSB
  9. 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 HMGCL
  10. 3-hydroxyisobutyric aciduria MONDO:0009371
  11. 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 HIBCH
  12. Beta-ketothiolase deficiency MONDO:0008760 ACAT1
  13. Combined malonic and methylmalonic acidemia MONDO:0013661 ACSF3
  14. Isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 ACAD8
  15. Isovaleric acidemia MONDO:0009475 IVD

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