ORPHA:79244
Pyruvate dehydrogenase E2 deficiency
Also known as: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency · Pyruvate dehydrogenase complex component E2 deficiency
Publications
3,919
Trials
0
Interventional, condition-specific
Researchers
115
Distinct authors in sample
Gene link
DLAT
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic and neurological dysfunction, mainly appearing during childhood.
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:0009502
- MeSH:C565448
- OMIM:245348
- UMLS:C1855565
Additional Mondo synonyms (4)
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency · pyruvate dehydrogenase E2 deficiency · pyruvate dehydrogenase complex component E2 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 — DLAT
- LiteraturePresent
3,919 matched papers (3,271 in last 10 years) Source
- Phenotype characterisedPresent
58 HPO annotations (e.g. Paroxysmal dystonia; Mild intellectual disability; Ataxia) 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 (DLAT).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
58
Associated phenotypes · MONDO:0009502
- Paroxysmal dystonia
- Mild intellectual disability
- Ataxia
- Generalized dystonia
- Choreoathetosis
Showing 5 of 58 — 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?
3,919
3,919 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.
3,919 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).
3,271 in the last 10 years · low confidence
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
115
Distinct author names in 15 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.
- 01Al Amri S1 paper · 2022
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 02Al Dughaishi T1 paper · 2022
Department of Obstetrics and Gynaecology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
Papers in Europe PMC - 03Al Fahdi B1 paper · 2022
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 04Al Hashmi N1 paper · 2022
National Genetic Centre, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 05Al Kharusi K1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Papers in Europe PMC - 06Al Kindy A1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Papers in Europe PMC - 07Al Murshedi F1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Papers in Europe PMC - 08Al Riyami N1 paper · 2022
Department of Obstetrics and Gynaecology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
Papers in Europe PMC - 09Al Salmani M1 paper · 2022
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 10Al Sayegh A1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
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 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.
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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Pyruvate dehydrogenase E2 deficiency — check Associations / patient organisations on that page.
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 E2 deficiency" OR "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" OR "Dihydrolipoamide acetyltransferase component of the pyruvate dehydrogenase complex deficiency" OR "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" OR "Dihydrolipoyllysine-residue acetyltransferase component of the pyruvate dehydrogenase complex deficiency" OR "Pyruvate dehydrogenase complex component E2 deficiency") OR (MESH:"Pyruvate Dehydrogenase E2 Deficiency") OR ("DLAT" OR "DLAT syndrome" OR "DLAT-related")MeSH descriptor terms unioned into the query: Pyruvate Dehydrogenase E2 Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pyruvate dehydrogenase E2 deficiency" OR "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" OR "Dihydrolipoamide acetyltransferase component of the pyruvate dehydrogenase complex deficiency" OR "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" OR "Dihydrolipoyllysine-residue acetyltransferase component of the pyruvate dehydrogenase complex deficiency" OR "Pyruvate dehydrogenase complex component E2 deficiency"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; 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
- Publication count (3919) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T02:07:48.914Z