Classic organic aciduria

Part of

Sub-types of Classic organic aciduria

• Propionic acidemia 8 trials
  2 sub-types

  • PCCA-related propionic acidemia 0 trials
  • PCCB-related propionic acidemia 0 trials
• 3-methylglutaconic aciduria 0 trials · 5 incl. sub-types
  10 sub-types

  • Barth syndrome 5 trials
  • 3-methylglutaconic aciduria type 1 0 trials
  • 3-methylglutaconic aciduria type 3 0 trials
  • 3-methylglutaconic aciduria type 4 0 trials
  • 3-methylglutaconic aciduria type 5 0 trials
  • 3-methylglutaconic aciduria type 8 0 trials
  • 3-methylglutaconic aciduria type 9 0 trials
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
  • 3-methylglutaconic aciduria, type VIIA 0 trials
  • 3-methylglutaconic aciduria, type VIIB 0 trials
• Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 trials
  2 sub-types

  • Vitamin B12-unresponsive methylmalonic acidemia type mut- 0 trials
  • Vitamin B12-unresponsive methylmalonic acidemia type mut0 0 trials
• Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types
  6 sub-types

  • Methylmalonic aciduria and homocystinuria type cblC 3 trials
  • Methylmalonic aciduria and homocystinuria type cblD 2 trials
  • Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
  • Methylmalonic aciduria and homocystinuria type cblF 1 trial
  • Methylmalonic acidemia with homocystinuria, type cblX 0 trials
  • Methylmalonic aciduria and homocystinuria, cb1L type 0 trials
• Multiple carboxylase deficiency 0 trials · 3 incl. sub-types
  2 sub-types

  • Biotinidase deficiency 3 trials
  • Holocarboxylase synthetase deficiency 1 trial
• Isovaleric acidemia 2 trials
• Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types
  3 sub-types

  • Methylmalonic aciduria, cblA type 2 trials
  • Methylmalonic aciduria, cblB type 1 trial
  • Vitamin B12-responsive methylmalonic acidemia, type cblDv2 0 trials
• 3-hydroxy-3-methylglutaric aciduria 1 trial
• Beta-ketothiolase deficiency 1 trial
• 3-methylcrotonyl-CoA carboxylase deficiency 0 trials · 1 incl. sub-types
  2 sub-types

  • 3-methylcrotonyl-CoA carboxylase 1 deficiency 1 trial
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency 1 trial
• 2-methylbutyryl-CoA dehydrogenase deficiency 0 trials
• 3-hydroxyisobutyric aciduria 0 trials
• 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
• Combined malonic and methylmalonic acidemia 0 trials
• Isobutyryl-CoA dehydrogenase deficiency 0 trials