ORPHA:79243
Pyruvate dehydrogenase E1-alpha deficiency
Also known as: PDHAD · Pyruvate decarboxylase deficiency · Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Publications
118
57.5th percentile
Trials
0
Interventional, condition-specific
Researchers
834
Distinct authors in sample
Gene link
DLST, PDHA1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic , impaired psychomotor development, and neurological dysfunction.
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:0010717
- MeSH:C564071
- OMIM:312170
- UMLS:C1839413
Additional Mondo synonyms (3)
pyruvate dehydrogenase E1-alpha deficiency · pyruvate dehydrogenase complex E1 component subunit alpha deficiency · pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant
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 — DLST, PDHA1
- LiteraturePresent
118 matched papers (61 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 (DLST, PDHA1).
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?
118
118 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.
118 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).
61 in the last 10 years · medium confidence · 57.5th percentile (publications denominator)
Phrase hits: 118 · MeSH hits: 0
Who's working on it?
834
Distinct author names in 118 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.
- 01Dahl HH5 papers · 1995
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.
Papers in Europe PMC - 02De Meirleir L5 papers · 2000
Pediatric Neurology and Medical Genetics, AZ-VUB Brussels, Belgium.
Papers in Europe PMC - 03Lissens W5 papers · 2000Papers in Europe PMC
- 04Li H4 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 05Li R4 papers · 2026
National Key Laboratory for Tropical Crop Breeding, Chinese Academy of Tropical Agricultural Sciences, Haikou 571101, China.
Papers in Europe PMC - 06
- 07Li L3 papers · 2026
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 08Liao C3 papers · 2026
The First School of Clinical Medicine, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 09Thorburn DR3 papers · 2022
Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia.
Papers in Europe PMC - 10Wang Y3 papers · 2024
Lab of Biorefinery, Shanghai Advanced Research Institute, Chinese Academy of Sciences, No. 99 Haike Road, Pudong, Shanghai, 201210, People's Republic of China.
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.
medium 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-alpha deficiency" OR "PDHAD" OR "Pyruvate decarboxylase deficiency" OR "Pyruvate dehydrogenase complex E1 component subunit alpha deficiency" OR "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant"
MeSH descriptor terms unioned into the query: Pyruvate Dehydrogenase E1 Alpha Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pyruvate dehydrogenase E1-alpha deficiency" OR "PDHAD" OR "Pyruvate decarboxylase deficiency" OR "Pyruvate dehydrogenase complex E1 component subunit alpha deficiency" OR "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" OR "Pyruvate Dehydrogenase E1 Alpha Deficiency" OR "DLST" OR "PDHA1"
Recall-expansion terms: DLST, PDHA1
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
- "Pyruvate decarboxylase deficiency" also appears on ORPHA:765
Ingested 2026-07-27T02:07:38.858Z