ORPHA:3008
Pyruvate carboxylase deficiency
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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
522
80.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,134
Distinct authors in sample
Gene link
PC
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009949
- MeSH:D015324
- OMIM:266150
- UMLS:C0034341
- NCIT:C85040
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.”
2/6 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.
- Gene identifiedPresent
Definitive — PC
- LiteraturePresent
522 matched papers (232 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 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)
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?
522
522 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=5449) is 41.
522 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).
232 in the last 10 years · high confidence · 80.8th percentile (publications denominator)
Phrase hits: 522 · MeSH hits: 0
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.
- 01Robinson BH5 papers · 2006
Department of Biochemistry, University of Toronto, Ontario, Canada.
Papers in Europe PMC - 02Barrea L4 papers · 2024
Dipartimento di Scienze Umanistiche, Università Telematica Pegaso, Via Porzio, Centro Direzionale, Isola F2, 80143 Napoli, Italy.
Papers in Europe PMC - 03Colao 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 - 04De Lonlay P4 papers · 2025
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.
Papers in Europe PMC - 05Kerr DS4 papers · 1998Papers in Europe PMC
- 06Muscogiuri 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 - 07Naito E4 papers · 2002
Department of Pediatrics, School of Medicine, University of Tokushima.
Papers in Europe PMC - 08Roe 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 - 09Vockley 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 - 10Ahmad 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 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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"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"
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" OR "PC"
Recall-expansion terms: PC
Study-type breakdown: 0 interventional · 0 observational · 1 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T21:59:41.056Z