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ORPHA:79314

L-2-hydroxyglutaric aciduria

low confidenceDisorder

Also known as: L-2-HGA · L-2-hydroxyglutaric acidemia

Publications

880

Trials

1

Interventional, condition-specific

Researchers

1,225

Distinct authors in sample

Gene link

L2HGDH

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar and variable macrocephaly or .

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.

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — L2HGDH

  2. LiteraturePresent

    880 matched papers (582 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Hearing impairment; Strabismus; Developmental regression) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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 (L2HGDH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0009370

  • Hearing impairment
  • Strabismus
  • Developmental regression
  • Cerebellar atrophy
  • Seizure

Showing 5 of 33 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

880

880 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.

880 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).

582 in the last 10 years · low confidence

Phrase hits: 480 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,225

Distinct author names in 200 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
    Jakobs C12 papers · 2017

    Metabolic Unit, Department of Clinical Chemistry, PK 1X 014, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands. c.jakobs@vumc.nl.

    Papers in Europe PMC
  2. 02
    Salomons GS10 papers · 2019

    Metabolic unit of the department of clinical chemistry, VU university medical center, 1081 HV Amsterdam, Pays-Bas.

    Papers in Europe PMC
  3. 03
    Struys EA7 papers · 2018

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

    Papers in Europe PMC
  4. 04
    Liu Y6 papers · 2024

    State Key Laboratory of Microbial Technology, Shandong University, Qingdao, People's Republic of China.

    Papers in Europe PMC
  5. 05
    van Schaftingen E5 papers · 2025

    Metabolic Research Group, de Duve Institute and UCLouvain, Brussels, Belgium.

    Papers in Europe PMC
  6. 06
    Wajner M5 papers · 2026

    Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address: mwajner@ufrgs.br.

    Papers in Europe PMC
  7. 07
    Avantaggiati ML4 papers · 2025

    Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA. ma364@georgetown.edu.

    Papers in Europe PMC
  8. 08
    DeBerardinis RJ4 papers · 2026

    Children's Medical Center Research Institute.

    Papers in Europe PMC
  9. 09
    van der Knaap MS4 papers · 2024

    Paediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Verhoeven NM4 papers · 2007
    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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 L-2-hydroxyglutaric aciduria — check Associations / patient organisations on that page.

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.

("L-2-hydroxyglutaric aciduria" OR "L-2-HGA" OR "L-2-hydroxyglutaric acidemia") OR ("L2HGDH" OR "L2HGDH syndrome" OR "L2HGDH-related")

Run this search on Europe PMC

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

"L-2-hydroxyglutaric aciduria" OR "L-2-HGA" OR "L-2-hydroxyglutaric acidemia"

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: 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 (880) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:15:36.585Z