Disease · MONDO_0004739

urea cycle disorder

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. urea cycle disorder. Diseases, record MONDO_0004739. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0004739

On this page

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: urea cycle disorder; Open Targets
Open Targets ID: MONDO_0004739; Open Targets
Other names: Disorder of urea cycle metabolism and ammonia detoxification, disorder of urea cycle metabolism, inborn disorder of urea cycle metabolism and ammonia detoxification, inborn urea cycle disorder, urea cycle disorders, urea cycle metabolism disorder; Open Targets
Disease Ontology: DOID:9267; Disease Ontology
MeSH: D056806; MeSH
NCI Thesaurus: C84785; NCI Thesaurus
Orphanet: ORPHA:79167; Orphanet
Highest stage of its drugs: Approval, for 2 of its 7 drugs, from DailyMed, EMA Human Drugs, FDA and PMDA; Open Targets

Drugs7

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
GLYCEROL PHENYLBUTYRATE	CHEMBL2105745	Small molecule	Approval	DailyMed, EMA Human Drugs and FDA	12	8	8	Drugs and targets
SODIUM PHENYLBUTYRATE	CHEMBL1746	Small molecule	Approval	DailyMed and PMDA	8	5	5	Drugs and targets
ONTERODRIMER	CHEMBL5095354	Small molecule	Phase 2	ClinicalTrials.gov and TTD	3	1	1	Drugs and targets
SODIUM BENZOATE	CHEMBL1356	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
SODIUM PHENYLACETATE	CHEMBL1200358	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
BIVALIRUDIN	CHEMBL5314348	Protein	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
HEPARIN	CHEMBL4650299	Oligosaccharide	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets2

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
F2	Prothrombin	1	Thrombin inhibitor	Phase 1/2	https://conductscience.org/library/genes/2147	Drugs and targets
SERPINC1	Antithrombin-III	1	Antithrombin-III activator	Phase 1/2	https://conductscience.org/library/genes/462	Drugs and targets

Trials12

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.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01257737	To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)	Phase 4	88	2018-05-04	Urea Cycle Disorders	GLYCEROL PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT00947297	Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)	Phase 3	60	2013-08-15	Urea Cycle Disorders	GLYCEROL PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT00992459	Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders	Phase 3	46	2013-08-12	Urea Cycle Disorders	SODIUM PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT02246218	A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders	Phase 4	27	2019-03-05	Urea Cycle Disorder	GLYCEROL PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT01347073	Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)	Phase 3	23	2015-05-28	Urea Cycle Disorders	GLYCEROL PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT00947544	Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders	Phase 2	17	2013-12-25	Urea Cycle Disorders	GLYCEROL PHENYLBUTYRATE, SODIUM PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT03335488	Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)	Phase 4	16	2023-07-10	Urea Cycle Disorder	GLYCEROL PHENYLBUTYRATE, SODIUM PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT00551200	Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders	Phase 2	14	2015-05-12	Urea Cycle Disorders	GLYCEROL PHENYLBUTYRATE, SODIUM PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT06904027	A Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders		40		Urea Cycle Disorders	GLYCEROL PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov
NCT00004767	Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders	Phase 2	20		Amino Acid Metabolism, Inborn Errors	SODIUM BENZOATE, SODIUM PHENYLACETATE, SODIUM PHENYLBUTYRATE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 12

See all 12 trials

Comparisons in its trials12

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
NaPBA vs HPN-100: Rate of Adverse Events in Each Treatment Group	23 of 45	27 of 44	89	NCT00992459	Trial comparisons
NaPBA vs HPN-100: serious adverse events	1 of 45	1 of 44	89	NCT00992459	Trial comparisons
HPN-100- Pediatric vs HPN-100 - Adult: Number of Participants With at Least One Adverse Event	34 of 45	40 of 43	88	NCT01257737	Trial comparisons
HPN-100- Pediatric vs HPN-100 - Adult: deaths from any cause	0 of 45	0 of 43	88	NCT01257737	Trial comparisons
HPN-100- Pediatric vs HPN-100 - Adult: serious adverse events	12 of 45	19 of 43	88	NCT01257737	Trial comparisons
NaPBA vs HPN-100: Adverse Events	0 of 15	6 of 15	30	NCT01347073	Trial comparisons
RAVICTI: Age 2 Months to < 2 Years vs RAVICTI: Age 0 to <2 Months: deaths from any cause	1 of 10	0 of 16	26	NCT02246218	Trial comparisons
RAVICTI: Age 2 Months to < 2 Years vs RAVICTI: Age 0 to <2 Months: serious adverse events	6 of 10	11 of 16	26	NCT02246218	Trial comparisons
Buphenyl vs HPN-100: Number of Subjects Experienced Adverse Events	7 of 14	5 of 10	24	NCT00551200	Trial comparisons
Buphenyl vs HPN-100: Number of Subjects Experienced Serious Adverse Events	1 of 14	0 of 10	24	NCT00551200	Trial comparisons

1 to 10 of 12

See all 12 comparisons in its trials

Papers from its trials6

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
30217721	RESULT	1	PubMed
28916119	RESULT	1	PubMed
32028991	DERIVED	1	PubMed
24144944	DERIVED	5	PubMed
23324524	DERIVED	1	PubMed
22961727	DERIVED	3	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_0004739

GET https://conductscience.org/api/diseases/v1/MONDO_0004739/drugs

API reference For AI assistants