ORPHA:255138
Pyruvate dehydrogenase E1-beta deficiency
Also known as: PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency
Publications
13
29.7th percentile
Trials
0
Interventional, condition-specific
Researchers
141
Distinct authors in sample
Gene link
PDHB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic , and .
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:0013580
- MeSH:C566729
- OMIM:614111
- UMLS:C3279841
Additional Mondo synonyms (2)
pyruvate dehydrogenase E1-beta deficiency · pyruvate dehydrogenase complex E1 component subunit beta 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 — PDHB
- LiteraturePresent
13 matched papers (12 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 (PDHB).
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?
13
13 papers have ever been indexed 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.
13 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
141
Distinct author names in 13 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.
- 01Abdulwahab F1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 02Abouelhoda M1 paper · 2023
Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mabouelhoda@kfshrc.edu.sa.
Papers in Europe PMC - 03Abuyousef O1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC - 04Acquaviva C1 paper · 2026
Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.
Papers in Europe PMC - 05Albreacan M1 paper · 2023
Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 06Alkuraya FS1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, MBC-26, PO Box 3354, Riyadh, 11211, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Papers in Europe PMC - 07Aloufi R1 paper · 2026
Pediatric Cardiology, King Fahad Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Alsohime F1 paper · 2023
Department of Pediatrics, Pediatric Critical Care Unit, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Alsuayyid A1 paper · 2026
Pediatric Cardiology, King Fahad Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 10Altamimi O1 paper · 2026
Pediatric Cardiology, King Fahad Medical City, Riyadh, Saudi Arabia.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"Pyruvate dehydrogenase E1-beta deficiency" OR "PDHBD" OR "Pyruvate dehydrogenase complex E1 component subunit beta deficiency"
MeSH descriptor terms unioned into the query: Pyruvate Dehydrogenase E1-Beta Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pyruvate dehydrogenase E1-beta deficiency" OR "PDHBD" OR "Pyruvate dehydrogenase complex E1 component subunit beta deficiency" OR "PDHB"
Recall-expansion terms: PDHB
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T11:10:15.409Z