ORPHA:353308
Pyruvate carboxylase deficiency, infantile type
Also known as: Pyruvate carboxylase deficiency type A
Publications
12
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
57
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by -onset, mild to moderate lactic acidemia, and a generally severe course.
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:0018141
- UMLS:C5679928
Additional Mondo synonyms (1)
pyruvate carboxylase deficiency type A
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
12 matched papers (9 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
12
12 papers have ever been indexed 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.
12 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).
9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
57
Distinct author names in 12 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.
- 01Ferreira CR2 papers · 2019
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.
Papers in Europe PMC - 02Horvath GA2 papers · 2018
Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 03van Karnebeek CDM2 papers · 2019
Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. Electronic address: c.d.vankarnebeek@amstedarmumc.nl.
Papers in Europe PMC - 04Ahmad A1 paper · 1993
Division of Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan
Papers in Europe PMC - 05Almomen M1 paper · 2018
Section of Neurology, Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Papers in Europe PMC - 06Aycan Z1 paper · 2021
Department of Pediatric Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkey.
Papers in Europe PMC - 07Baruteau J1 paper · 2024
Department of Paediatric Metabolic Medicine Great Ormond Street Hospital for Children London UK.
Papers in Europe PMC - 08Bedoyan JK1 paper · 1993
Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine and UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
Papers in Europe PMC - 09Bell H1 paper · 2015
Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, 1157 BRB II/III, 421 Curie Boulevard, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 10Bernhardt I1 paper · 2024
Department of Paediatric Metabolic Medicine Great Ormond Street Hospital for Children London UK.
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, infantile type" OR "Pyruvate carboxylase deficiency type A"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pyruvate carboxylase deficiency, infantile type" OR "Pyruvate carboxylase deficiency type A" OR "pyruvate carboxylase deficiency disease"
Recall-expansion terms: 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, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T14:25:26.418Z