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ORPHA:356978

D,L-2-hydroxyglutaric aciduria

high confidenceDisorder

Also known as: D,L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria · D,L-2-HGA

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

42

44.5th percentile

Trials

1

Interventional, condition-specific

Researchers

260

Distinct authors in sample

Gene link

SLC25A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of metabolism characterized by severe epileptic , episodes of apnea and respiratory distress, severe global or absent psychomotor development, severe muscular or absent voluntary movements, feeding difficulties and , absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or of the corpus callosum), mild features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SLC25A1

  2. LiteraturePresent

    42 matched papers (31 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (SLC25A1).

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?

42

42 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.

42 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).

31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)

Phrase hits: 42 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

260

Distinct author names in 42 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Salomons GS6 papers · 2019

    Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Struys EA6 papers · 2018

    Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, Amsterdam, The Netherlands. e.struys@vumc.nl

    Papers in Europe PMC
  3. 03
    Jakobs C5 papers · 2013
    Papers in Europe PMC
  4. 04
    Avantaggiati ML4 papers · 2025

    Department of Oncology, Georgetown University Medical Center, Washington, DC 20057, USA.

    Papers in Europe PMC
  5. 05
    Vockley J4 papers · 2025

    Department of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

    Papers in Europe PMC
  6. 06
    Kasprzyk-Pawelec A3 papers · 2025

    Department of Oncology, Georgetown University Medical Center, Washington, DC 20057, USA.

    Papers in Europe PMC
  7. 07
    Santer R3 papers · 2018

    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  8. 08
    Van der Knaap MS3 papers · 2014
    Papers in Europe PMC
  9. 09
    Albanese C2 papers · 2025

    Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.

    Papers in Europe PMC
  10. 10
    Dobrowolski SF2 papers · 2024

    Department of Pathology, Clinical Biochemical Genetics Laboratory, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: 2-hydroxyglutaric aciduria

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 2026-07-26

This 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,L-2-hydroxyglutaric aciduria" OR "D,L-2-hydroxyglutaric acidemia" OR "Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" OR "Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" OR "D,L-2-HGA"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"D,L-2-hydroxyglutaric aciduria" OR "D,L-2-hydroxyglutaric acidemia" OR "Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" OR "Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" OR "D,L-2-HGA" OR "SLC25A1"

Recall-expansion terms: SLC25A1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"2-hydroxyglutaric aciduria"

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 2026-07-27T14:28:24.463Z