ORPHA:13
6-pyruvoyl-tetrahydropterin synthase deficiency
Also known as: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
166
66.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,124
Distinct authors in sample
Gene link
PTS, SPR
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by -onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with , , complex movement disorder dominated by dystonia or dystonia parkinsonism.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009863
- MeSH:C535325
- OMIM:261640
- UMLS:C0878676
- NCIT:C138171
Additional Mondo synonyms (8)
6-pyruvoyl tetrahydropterin synthase deficiency · BH4-deficient hyperphenylalaninemia A · Bh4-deficient hyperphenylalaninemia type A · HPABH4A · PTS deficiency · hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency · hyperphenylalaninemia, BH4-deficient A · hyperphenylalaninemia, Bh4-deficient, type a
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — PTS, SPR
- LiteraturePresent
166 matched papers (102 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (PTS, SPR).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
166
166 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
166 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
102 in the last 10 years · high confidence · 66.6th percentile (publications denominator)
Phrase hits: 166 · MeSH hits: 0
Who's working on it?
1,124
Distinct author names in 166 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Blau N18 papers · 2026
Division of Clinical Chemistry, University Children's Hospital, Zürich, Switzerland.
Papers in Europe PMC - 02Opladen T8 papers · 2026
Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Germany.
Papers in Europe PMC - 03Thöny B8 papers · 2020
Division of Metabolism, Department of Pediatrics, University of Zürich (affiliated with the Children's Research Center and the Neuroscience Center Zürich), Zürich, Switzerland.
Papers in Europe PMC - 04Shintaku H7 papers · 2013
Universitäts-Kinderklinik, Medizinisch-Chemische Abteilung, Zurich, Switzerland.
Papers in Europe PMC - 05Ponzone A6 papers · 2010
Department of Pediatric Clinic, University of Torino, Italy.
Papers in Europe PMC - 06Wang Y6 papers · 2025
Tianjin Translational Genomics Center, BGI-Tianjin, BGI-Shenzhen, Tianjin, 300308, China.
Papers in Europe PMC - 07Burlina A5 papers · 2021
U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy.
Papers in Europe PMC - 08Hoffmann GF5 papers · 2026
Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Papers in Europe PMC - 09Hsiao KJ5 papers · 2019
Department of Medical Research, Taipei Veterans General Hospital, Taiwan; Preventive Medicine Foundation, Taipei, Taiwan; Department of Education and Research, Taipei City Hospital, Taipei, Taiwan.
Papers in Europe PMC - 10Leuzzi V5 papers · 2021
Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Non-PKU hyperphenylalaninemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"6-pyruvoyl-tetrahydropterin synthase deficiency" OR "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" OR "6-pyruvoyl tetrahydropterin synthase deficiency" OR "BH4-deficient hyperphenylalaninemia A" OR "Bh4-deficient hyperphenylalaninemia type A" OR "HPABH4A" OR "PTS deficiency" OR "hyperphenylalaninemia, BH4-deficient A" OR "hyperphenylalaninemia, Bh4-deficient, type a"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"6-pyruvoyl-tetrahydropterin synthase deficiency" OR "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" OR "6-pyruvoyl tetrahydropterin synthase deficiency" OR "BH4-deficient hyperphenylalaninemia A" OR "Bh4-deficient hyperphenylalaninemia type A" OR "HPABH4A" OR "PTS deficiency" OR "hyperphenylalaninemia, BH4-deficient A" OR "hyperphenylalaninemia, Bh4-deficient, type a" OR "PTS" OR "SPR"
Recall-expansion terms: PTS, SPR
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:05:11.655Z