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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Scientists launch deep dive into rare metabolic disease MMA
Knowledge-focused Recruiting nowThis study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Scientists launch Largest-Ever study to unravel rare metabolic disease
Knowledge-focused Recruiting nowThis study follows people with propionic acidemia (PA), a rare metabolic disorder, to track how the disease affects the body over time. Researchers will collect medical history, blood, urine, and other samples, and perform imaging and heart tests during annual hospital visits. Th…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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Home test for rare metabolic disease: will patients use it?
Knowledge-focused Recruiting nowThis study looks at whether people with certain rare metabolic disorders that cause high ammonia levels will measure their ammonia at home every day. About 30 participants will use a special device to check their ammonia, along with temperature, heart rate, and blood oxygen. They…
Sponsor: Sequitur Health Corp. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC