ORPHA:79315
D-2-hydroxyglutaric aciduria
Also known as: D-2-HGA · D-2-hydroxyglutaric acidemia
Publications
264
72.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,215
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010924
- UMLS:C1833429
Additional Mondo synonyms (1)
D-2-hydroxyglutaric aciduria type 1
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
264 matched papers (138 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 trialPartial
None under the specific name; 1 for broader category 2-hydroxyglutaric aciduria
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
264
264 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.
264 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).
138 in the last 10 years · medium confidence · 72.3th percentile (publications denominator)
Phrase hits: 264 · MeSH hits: 0
Who's working on it?
1,215
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.
- 01Jakobs C30 papers · 2017
Metabolic Unit, Clinical Chemistry, VUmc Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
Papers in Europe PMC - 02Struys EA19 papers · 2019
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. e.struys@vumc.nl
Papers in Europe PMC - 03Salomons GS15 papers · 2019
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center/ Neuroscience Campus, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Wajner M14 papers · 2026
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Papers in Europe PMC - 05van der Knaap MS11 papers · 2024
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Gibson KM9 papers · 2019
Metabolic Disease Center, Baylor Research Institute, Dallas, Texas, USA.
Papers in Europe PMC - 07van Schaftingen E8 papers · 2025
de Duve Institute, Université Catholique de Louvain (UCLouvain), Brussels, Belgium.
Papers in Europe PMC - 08Hoffmann GF7 papers · 2013Papers in Europe PMC
- 09Leipnitz G7 papers · 2026
Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600, Prédio 21111, Porto Alegre, RS 90035-003, Brazil.
Papers in Europe PMC - 10Verhoeven NM7 papers · 2006Papers 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). 1 trial are registered for 2-hydroxyglutaric aciduria, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched 2-hydroxyglutaric aciduria, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: 2-hydroxyglutaric aciduria
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07125066·ENROLLING BY INVITATION·An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2 Hydroxyglutaric Aciduria (C-2HGA)
Conditions: Combined D,L-2-hydroxyglutaric Aciduria·Matched via name phrase
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.
"D-2-hydroxyglutaric aciduria" OR "D-2-HGA" OR "D-2-hydroxyglutaric acidemia" OR "D-2-hydroxyglutaric aciduria type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"D-2-hydroxyglutaric aciduria" OR "D-2-HGA" OR "D-2-hydroxyglutaric acidemia" OR "D-2-hydroxyglutaric aciduria type 1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"2-hydroxyglutaric aciduria"
Query health: ok — strategies attempted: phrase; 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
- Publication count (264) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T02:15:45.750Z