Inborn organic aciduria
MONDO:0000688An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
Also known as: disorder of organic acid metabolism, organic acid metabolism disorder, inborn error of organic acid metabolic process, inborn organic acid metabolic process disorder, organic acidemia, organic aciduria, rare inborn error of organic acid metabolic process, inherited organic acidemia
29 clinical trials for this condition and its sub-types, 5 tagged with Inborn organic aciduria itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn organic aciduria
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Classic organic aciduria 0 trials · 20 incl. sub-types
15 sub-types
- Propionic acidemia 8 trials Sub-types →
- 3-methylglutaconic aciduria 0 trials · 5 incl. sub-types Sub-types →
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 trials Sub-types →
- Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
- Multiple carboxylase deficiency 0 trials · 3 incl. sub-types Sub-types →
- Isovaleric acidemia 2 trials
- Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types Sub-types →
- 3-hydroxy-3-methylglutaric aciduria 1 trial
- 3-methylcrotonyl-CoA carboxylase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Beta-ketothiolase 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
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Methylmalonic acidemia 7 trials · 8 incl. sub-types
7 sub-types
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 trials Sub-types →
- Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
- Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types Sub-types →
- Combined malonic and methylmalonic acidemia 0 trials
- Isolated methylmalonic aciduria cblD type 0 trials
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 0 trials
- Methylmalonic acidemia due to transcobalamin receptor defect 0 trials
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Maple syrup urine disease 2 trials · 4 incl. sub-types
9 sub-types
- Maple syrup urine disease type 1A 1 trial
- Maple syrup urine disease type 1B 1 trial
- Maple syrup urine disease type 2 1 trial
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Classic maple syrup urine disease 0 trials
- Intermediate maple syrup urine disease 0 trials
- Intermittent maple syrup urine disease 0 trials
- Maple syrup urine disease, mild variant 0 trials
- Thiamine-responsive maple syrup urine disease 0 trials
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Glutaric acidemia type 3 0 trials
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Malonic aciduria 0 trials
Most studied deeper sub-types
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Gene therapy for rare metabolic disease passes early safety check
Disease control OngoingThis study follows 4 people with methylmalonic acidemia who previously received hLB-001 gene therapy. Researchers are checking for long-term side effects. The goal is to see if the treatment remains safe over time.
Sponsor: Alexion Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:02 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC