Disease · MONDO_0016543

hyperphenylalaninemia due to tetrahydrobiopterin deficiency

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Diseases, record MONDO_0016543. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0016543

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: hyperphenylalaninemia due to tetrahydrobiopterin deficiency; Open Targets
Open Targets ID: MONDO_0016543; Open Targets
Other names: Hyperphenylalaninemia, hyperphenylalaninemia due to BH4 deficiency, non-phenylketonuric hyperphenylalaninemia; Open Targets
Orphanet: ORPHA:238583; Orphanet
Highest stage of its drugs: Approval, for 1 of its 4 drugs, from DailyMed and TTD; Open Targets

Drugs4

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
SAPROPTERIN DIHYDROCHLORIDE	CHEMBL1201775	Small molecule	Approval	DailyMed and TTD	6	4	4	Drugs and targets
PEGVALIASE	CHEMBL4297802	Enzyme	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
SAPROPTERIN	CHEMBL1201774	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
SEPIAPTERIN	CHEMBL1255653	Small molecule	Phase 1/2	TTD	1	0	0	Drugs and targets

Targets1

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
PAH	Phenylalanine-4-hydroxylase	2	Phenylalanine-4-hydroxylase activator	Approval	https://conductscience.org/library/genes/5053

Source Drugs and 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.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01819727	An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165	Phase 3	261	2018-09-10	Phenylketonuria	PEGVALIASE	Its record names the disease	ClinicalTrials.gov
NCT00355264	Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency	Phase 2	12	2020-09-25	Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT01541397	Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy	Not applicable	6	2015-07-07	Hyperphenylalaninemia, Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT00432822	Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety	Phase 2/3	50		Phenylalanine Hydroxylase Deficiencies	SAPROPTERIN	Its record names the disease	ClinicalTrials.gov
NCT03864029	Retrospective Observational Safety Effectiveness With Kuvan in hpA		26		Tetrahydrobiopterin Deficiency	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT00827762	Behavioral Effects of Kuvan in Children With Mild Phenylketonuria		2		Phenylketonuria	SAPROPTERIN DIHYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials3

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
BMN 165, 20mg/Day vs BMN 165, 40mg/Day: Number of Participants With Hypersensitivity Adverse Reaction	111 of 131	119 of 130	261	NCT01819727	Trial comparisons
BMN 165, 20mg/Day vs BMN 165, 40mg/Day: deaths from any cause	1 of 131	0 of 130	261	NCT01819727	Trial comparisons
BMN 165, 20mg/Day vs BMN 165, 40mg/Day: serious adverse events	7 of 131	19 of 130	261	NCT01819727	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
40411344	DERIVED	1	PubMed
34826353	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_0016543

GET https://conductscience.org/api/diseases/v1/MONDO_0016543/drugs

API reference For AI assistants