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ORPHA:941

D-glyceric aciduria

high confidenceDisorder

Also known as: D-glycerate kinase deficiency · D-glyceric acidemia

Publications

291

69.3th percentile

Trials

0

Interventional, condition-specific

Researchers

299

Distinct authors in sample

Gene link

GLYCTK

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic , , , microcephaly, , behavioral abnormalities, as well as only mild speech delay and apparently normal development.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

d-glyceric 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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — GLYCTK

  2. LiteraturePresent

    291 matched papers (217 in last 10 years) Source

  3. Phenotype characterisedPresent

    66 HPO annotations (e.g. Loss of consciousness; Nonketotic hyperglycinemia; Severe global developmental delay) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. 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 (GLYCTK).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

66

Associated phenotypes · MONDO:0009070

  • Loss of consciousness
  • Nonketotic hyperglycinemia
  • Severe global developmental delay
  • Brain atrophy
  • Profound global developmental delay

Showing 5 of 66 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

291

291 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=3967) is 59.

291 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).

217 in the last 10 years · high confidence · 69.3th percentile (publications denominator)

Phrase hits: 53 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

299

Distinct author names in 53 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.

  1. 01
    Duran M5 papers · 2003
    Papers in Europe PMC
  2. 02
    Sass JO5 papers · 2026

    Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Germany. joern.oliver.sass@uniklinik-freiburg.de

    Papers in Europe PMC
  3. 03
    Sewell AC4 papers · 2007

    Department of Paediatrics, University Children's Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany. Adrian.Sewell@kgu.de

    Papers in Europe PMC
  4. 04
    Brandt NJ3 papers · 1980
    Papers in Europe PMC
  5. 05
    Christensen E3 papers · 2017

    Department of Clinical Genetics, Juliane Marie Centre, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

    Papers in Europe PMC
  6. 06
    Wadman SK3 papers · 1987
    Papers in Europe PMC
  7. 07
    Walter M3 papers · 2026

    Laboratory of Clinical Biochemistry & Metabolism, University of Freiburg Children's Hospital, Mathildenstr. 1, 79106 Freiburg, Germany.

    Papers in Europe PMC
  8. 08
    Wang L3 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  9. 09
    Bruinvis L2 papers · 1987
    Papers in Europe PMC
  10. 10
    Fernando M2 papers · 2020

    University Children's Hospital, Freiburg, Germany.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 2026-07-29

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 D-glyceric 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.

("D-glyceric aciduria" OR "D-glycerate kinase deficiency" OR "D-glyceric acidemia") OR ("GLYCTK" OR "GLYCTK syndrome" OR "GLYCTK-related")

Run this search on Europe PMC

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

"D-glyceric aciduria" OR "D-glycerate kinase deficiency" OR "D-glyceric acidemia"

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

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

Ingested 2026-07-26T15:58:28.639Z