ORPHA:31
Oxoglutaric aciduria
Also known as: Alpha-ketoglutarate dehydrogenase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
57
38.6th percentile
Trials
0
Interventional, condition-specific
Researchers
518
Distinct authors in sample
Gene link
OGDH
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, inborn error of metabolism disorder characterized by -onset of , , , lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to and neurologic anomalies, including .
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:0008759
- MeSH:C536582
- OMIM:203740
- UMLS:C2752074
Additional Mondo synonyms (1)
oxoglutarate dehydrogenase 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
Strong — OGDH
- LiteraturePresent
57 matched papers (22 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 (OGDH).
GenCC classification: Strong.
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?
57
57 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.
57 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).
22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)
Phrase hits: 57 · MeSH hits: 0
Who's working on it?
518
Distinct author names in 57 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.
- 01Campeau PM4 papers · 2019
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 02Chretien D4 papers · 2018
Department of Neurology (C.M., B.C.), Gui de Chauliac Montpellier University Hospital; EA7402 Institut Universitaire de Recherche Clinique (C.M., L.L., M.K., C.G.), and Laboratoire de Génétique Moléculaire, University Hospital; Maladies Sensorielles Génétiques (C.H., M.Q., C.D., E.S.), CHRU; INSERM U1051 (C.H., M.Q., C.D., E.S.), Institute for Neurosciences of Montpellier; Université Montpellier (C.H., M.Q., C.D., E.S.), France; INSERM UMR 1141 (D.C., P.R.), PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, France.
Papers in Europe PMC - 03Munnich A4 papers · 2018
INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France.
Papers in Europe PMC - 04Rustin P4 papers · 2018
Department of Neurology (C.M., B.C.), Gui de Chauliac Montpellier University Hospital; EA7402 Institut Universitaire de Recherche Clinique (C.M., L.L., M.K., C.G.), and Laboratoire de Génétique Moléculaire, University Hospital; Maladies Sensorielles Génétiques (C.H., M.Q., C.D., E.S.), CHRU; INSERM U1051 (C.H., M.Q., C.D., E.S.), Institute for Neurosciences of Montpellier; Université Montpellier (C.H., M.Q., C.D., E.S.), France; INSERM UMR 1141 (D.C., P.R.), PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, France.
Papers in Europe PMC - 05Haack TB3 papers · 2019
Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 06Mayr JA3 papers · 2018
Department of Pediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria. Electronic address: h.mayr@salk.at.
Papers in Europe PMC - 07Rötig A3 papers · 2018
INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
Papers in Europe PMC - 08Bonnefont JP2 papers · 2005
INSERM U-12, Département de Pédiatrie Hôpital des Enfants-Malades, Paris, France.
Papers in Europe PMC - 09de Lonlay P2 papers · 2018
Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, 75015 Paris, France; UMR1163, University Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address: pascale.delonlay@aphp.fr.
Papers in Europe PMC - 10Dumoulin R2 papers · 2005Papers 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 2026-07-26This 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.
"Oxoglutaric aciduria" OR "Alpha-ketoglutarate dehydrogenase deficiency" OR "oxoglutarate dehydrogenase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oxoglutaric aciduria" OR "Alpha-ketoglutarate dehydrogenase deficiency" OR "oxoglutarate dehydrogenase deficiency" OR "OGDH"
Recall-expansion terms: OGDH
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 2026-07-26T12:09:34.700Z