ORPHA:1578
Pterin-4 alpha-carbinolamine dehydratase deficiency
Also known as: Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency · Hyperphenylalaninemia with primapterinuria
Publications
1,431
Trials
0
Interventional, condition-specific
Researchers
1,265
Distinct authors in sample
Gene link
PCBD1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular , irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.
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:0009908
- MeSH:C538382
- OMIM:264070
- UMLS:C1849700
Additional Mondo synonyms (10)
CADH deficiency · PCBD deficiency · PCBD1 deficiency · PCD deficiency · dehydratase deficiency · hyperphenylalaninemia due to dehydratase deficiency · hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency · hyperphenylalaninemia with primapterinuria · hyperphenylalaninemia, Bh4-deficient, type D · pterin-4 alpha-carbinolamine dehydratase 1 deficiency
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.”
3/6 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 — PCBD1
- LiteraturePresent
1,431 matched papers (939 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Elevated urinary 7-biopterin level; Generalized hypotonia; Hypertonia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PCBD1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
20
Associated phenotypes · MONDO:0009908
- Elevated urinary 7-biopterin level
- Generalized hypotonia
- Hypertonia
- Hyperphenylalaninemia
- Tremor
Showing 5 of 20 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,431
1,431 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,431 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
939 in the last 10 years · low confidence
Phrase hits: 941 · MeSH hits: 0
Who's working on it?
1,265
Distinct author names in 200 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.
- 01Aucella F6 papers · 2024
Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Papers in Europe PMC - 02Bonkovsky HL4 papers · 2025
Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine and Atrium Health Wake Forest Baptist Medicine, Winston-Salem, NC. Electronic address: hbonkovsky@me.com.
Papers in Europe PMC - 03Ventura P4 papers · 2026
Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy.
Papers in Europe PMC - 04Vismarra A4 papers · 2025
Department of Veterinary Sciences, University of Parma, Parma, Italy.
Papers in Europe PMC - 05Zhao Y4 papers · 2026
Department of Nutrition and Food Hygiene, School of Public Health, Harbin Medical University, Harbin, Heilongjiang Province, P.R. China.
Papers in Europe PMC - 06Ciuca L3 papers · 2025
Department of Veterinary Medicine and Animal Production, Center for Monitoring of Parasitosis (CREMOPAR), University of Naples Federico, Naples, Italy.
Papers in Europe PMC - 07Crisetti A3 papers · 2024
Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Papers in Europe PMC - 08Ferrara G3 papers · 2024
Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Papers in Europe PMC - 09Genchi M3 papers · 2025
Department of Veterinary Sciences, University of Parma, Parma, Italy. Electronic address: marco.genchi@unipr.it.
Papers in Europe PMC - 10Guida CC3 papers · 2024
Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (1)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Pterin-4 alpha-carbinolamine dehydratase deficiency — check Associations / patient organisations on that page.
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.
("Pterin-4 alpha-carbinolamine dehydratase deficiency" OR "Hyperphenylalaninemia due to dehydratase deficiency" OR "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" OR "Hyperphenylalaninemia with primapterinuria" OR "CADH deficiency" OR "PCBD deficiency" OR "PCBD1 deficiency" OR "PCD deficiency" OR "dehydratase deficiency" OR "hyperphenylalaninemia, Bh4-deficient, type D" OR "pterin-4 alpha-carbinolamine dehydratase 1 deficiency") OR ("PCBD1" OR "PCBD1 syndrome" OR "PCBD1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pterin-4 alpha-carbinolamine dehydratase deficiency" OR "Hyperphenylalaninemia due to dehydratase deficiency" OR "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" OR "Hyperphenylalaninemia with primapterinuria" OR "CADH deficiency" OR "PCBD deficiency" OR "PCBD1 deficiency" OR "PCD deficiency" OR "dehydratase deficiency" OR "hyperphenylalaninemia, Bh4-deficient, type D" OR "pterin-4 alpha-carbinolamine dehydratase 1 deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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
- Publication count (1431) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T17:46:28.850Z