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ORPHA:3008

Pyruvate carboxylase deficiency

low confidenceDisorder

Also known as: Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II · Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency · Leigh syndrome due to PC deficiency · Leigh syndrome due to pyruvate carboxylase deficiency

Publications

1,966

Trials

0

Interventional, condition-specific

Researchers

1,134

Distinct authors in sample

Gene link

PC

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by , , , and recurrent at an early age in severely affected patients.

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 (3)

ataxia with lactic acidosis type 2 · ataxia with lactic acidosis type II · pyruvate carboxylase deficiency disease

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

    Definitive — PC

  2. LiteraturePresent

    1,966 matched papers (1,394 in last 10 years) Source

  3. Phenotype characterisedPresent

    86 HPO annotations (e.g. Infantile spasms; Cerebellar gliosis; Cerebral white matter atrophy) 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 (PC).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

86

Associated phenotypes · MONDO:0009949

  • Infantile spasms
  • Cerebellar gliosis
  • Cerebral white matter atrophy
  • Delayed ability to sit
  • Dyskinesia

Showing 5 of 86 — 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

1

Drugs / clinical candidates · MONDO_0009949

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,966

1,966 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.

1,966 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).

1,394 in the last 10 years · low confidence

Phrase hits: 522 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,134

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.

  1. 01
    Robinson BH5 papers · 2006

    Department of Biochemistry, University of Toronto, Ontario, Canada.

    Papers in Europe PMC
  2. 02
    Barrea L4 papers · 2024

    Dipartimento di Scienze Umanistiche, Università Telematica Pegaso, Via Porzio, Centro Direzionale, Isola F2, 80143 Napoli, Italy.

    Papers in Europe PMC
  3. 03
    Colao A4 papers · 2024

    Centro Italiano per la Cura e il Benessere del Paziente con Obesità (C.I.B.O), Unit of Endocrinology, Dipartimento di Medicina Clinica e Chirurgia, Federico II University Medical School of Naples, Via Sergio Pansini 5, 80131 Napoli, Italy.

    Papers in Europe PMC
  4. 04
    De Lonlay P4 papers · 2025

    Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.

    Papers in Europe PMC
  5. 05
    Kerr DS4 papers · 1998
    Papers in Europe PMC
  6. 06
    Muscogiuri G4 papers · 2024

    Centro Italiano per la Cura e il Benessere del Paziente con Obesità (C.I.B.O), Unit of Endocrinology, Dipartimento di Medicina Clinica e Chirurgia, Federico II University Medical School of Naples, Via Sergio Pansini 5, 80131 Napoli, Italy.

    Papers in Europe PMC
  7. 07
    Naito E4 papers · 2002

    Department of Pediatrics, School of Medicine, University of Tokushima.

    Papers in Europe PMC
  8. 08
    Roe CR4 papers · 2023

    Rare Brain Disorders Program, Department of Neurology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd. Mail Code 8813, Dallas, TX, 75390, USA.

    Papers in Europe PMC
  9. 09
    Vockley J4 papers · 2023

    Division of Medical Genetics University of Pittsburgh School of Medicine, Center for Rare Disease Therapy, Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.

    Papers in Europe PMC
  10. 10
    Ahmad A3 papers · 2014

    University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA.

    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.

low 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Pyruvate carboxylase deficiency — 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.

("Pyruvate carboxylase deficiency" OR "Ataxia with lactic acidosis type 2" OR "Ataxia with lactic acidosis type II" OR "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" OR "Leigh syndrome due to PC deficiency" OR "Leigh syndrome due to pyruvate carboxylase deficiency" OR "pyruvate carboxylase deficiency disease") OR ("PC syndrome" OR "PC-related")

Run this search on Europe PMC

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

"Pyruvate carboxylase deficiency" OR "Ataxia with lactic acidosis type 2" OR "Ataxia with lactic acidosis type II" OR "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" OR "Leigh syndrome due to PC deficiency" OR "Leigh syndrome due to pyruvate carboxylase deficiency" OR "pyruvate carboxylase deficiency disease"

Study-type breakdown: 0 interventional · 0 observational · 1 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
  • Publication count (1966) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T21:59:41.056Z