Disease · MONDO_0002012

methylmalonic acidemia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. methylmalonic acidemia. Diseases, record MONDO_0002012. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0002012

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: methylmalonic acidemia; Open Targets
Open Targets ID: MONDO_0002012; Open Targets
Other names: Elevated circulating methylmalonic acid concentration, Elevated methylmalonic acid concentration, Elevated methylmalonic acid level, Elevated methylmalonic acid level in blood, Increased methylmalonic acid concentration, Increased methylmalonic acid level, Increased methylmalonic acid level in blood, methylmalonic aciduria; Open Targets
Disease Ontology: DOID:14749; Disease Ontology
MeSH: C537358; MeSH
NCI Thesaurus: C98986; NCI Thesaurus
Highest stage of its drugs: Phase 3, for 1 of its 3 drugs, from ClinicalTrials.gov; Open Targets

Drugs3

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
CARGLUMIC ACID	CHEMBL1201780	Small molecule	Phase 3	ClinicalTrials.gov	5	5	4	Drugs and targets
ATALUREN	CHEMBL256997	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
SIROLIMUS	CHEMBL413	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets80

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
CPS1	Carbamoyl-phosphate synthase [ammonia], mitochondrial	1	Carbamoyl-phosphate synthase [ammonia], mitochondrial positive allosteric modulator	Phase 3	https://conductscience.org/library/genes/1373	Drugs and targets
FAU	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/2197	Drugs and targets
FKBP1A	Peptidyl-prolyl cis-trans isomerase FKBP1A	1	FK506-binding protein 1A inhibitor	Phase 1/2	https://conductscience.org/library/genes/2280	Drugs and targets
RPL10	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6134	Drugs and targets
RPL10A	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/4736	Drugs and targets
RPL11	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6135	Drugs and targets
RPL12	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6136	Drugs and targets
RPL13	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6137	Drugs and targets
RPL13A	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/23521	Drugs and targets
RPL14	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/9045	Drugs and targets

1 to 10 of 80

See all 80 targets

Trials6

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01599286	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia	Phase 2	35	2021-02-15	Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency	CARGLUMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT01141075	Ataluren for Nonsense Mutation Methylmalonic Acidemia	Phase 2	11	2020-07-07	Amino Acid Metabolism, Inborn Errors	ATALUREN	Its record names the disease	ClinicalTrials.gov
NCT01597440	Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia	Phase 2	1	2017-04-26	Propionic Acidemia, Methylmalonic Acidemia	CARGLUMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT02426775	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia	Phase 3	33		Propionic Acidemia, Methylmalonic Acidemia	CARGLUMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT04284917	Long-term Efficacy of Carglumic Acid in Organic Acidemia.	Not applicable	3		Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)	CARGLUMIC ACID	Its record names the disease	ClinicalTrials.gov
NCT05778877	A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA	Phase 1/2	0		Methylmalonic Acidemia (MMA)	SIROLIMUS	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
N-carbamylglutamate (NCG) vs Placebo: deaths from any cause	14 of 25	10 of 24	49	NCT01599286	Trial comparisons
N-carbamylglutamate (NCG) vs Placebo: serious adverse events	8 of 25	6 of 24	49	NCT01599286	Trial comparisons

Papers from its trials2

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
33006765	DERIVED	1	PubMed
31196016	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0002012

GET https://conductscience.org/api/diseases/v1/MONDO_0002012/targets?page=2

API reference For AI assistants