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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
941
91.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,265
Distinct authors in sample
Gene link
PCBD1
Definitive
Readiness
2/6
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.”
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 — PCBD1
- LiteraturePresent
941 matched papers (576 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 (PCBD1).
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?
941
941 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=5449) is 41.
941 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).
576 in the last 10 years · high confidence · 91.1th percentile (publications denominator)
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 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.
"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"
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" OR "PCBD1"
Recall-expansion terms: PCBD1
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 2026-07-26T17:46:28.850Z