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ORPHA:35

Propionic acidemia

high confidenceDisorder

Also known as: Ketotic hyperglycinemia · Propionic aciduria · Propionyl-CoA carboxylase deficiency

Publications

2,541

94.6th percentile

Trials

14

Interventional, condition-specific

Researchers

1,227

Distinct authors in sample

Gene link

PCCA, PCCB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of decompensation, neurological dysfunction and that may be complicated by .

How rare: >1 / 1000

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

GLYCINEMIA, ketotic · ketotic hyperglycinemia · propionic acidemia · propionic aciduria · propionyl-CoA carboxylase deficiency

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

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

  1. Gene identifiedPresent

    Definitive — PCCA, PCCB

  2. LiteraturePresent

    2,541 matched papers (1,505 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (4 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 (PCCA, PCCB).

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?

2,541

2,541 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.

2,541 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).

1,505 in the last 10 years · high confidence · 94.6th percentile (publications denominator)

Phrase hits: 2,541 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,227

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
    Desviat LR12 papers · 2026

    Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Richard E12 papers · 2026

    Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

    Papers in Europe PMC
  3. 03
    Chen X9 papers · 2026

    Surgical Research Lab, Department of Surgery, Cooper University Hospital and Cooper Medical School of Rowan University, Camden, NJ, 08103, USA.

    Papers in Europe PMC
  4. 04
    Kölker S9 papers · 2025

    Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Sikirica V8 papers · 2026

    Moderna, Inc., 200 Technology Sq, Cambridge, MA 02139, USA.

    Papers in Europe PMC
  6. 06
    Vockley J8 papers · 2026

    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
  7. 07
    Zhang GF7 papers · 2026

    Duke Molecular Physiology Institute and Sarah W. Stedman Nutrition and Metabolism Center, Duke University Medical Center, Carmichael Building 48-203, 300 North Duke Street, Durham, NC, 27701, USA. Guofang.zhang@duke.edu.

    Papers in Europe PMC
  8. 08
    Álvarez M6 papers · 2026

    Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Banerjee G6 papers · 2025

    Moderna, Inc., Cambridge, USA.

    Papers in Europe PMC
  10. 10
    Brassier A6 papers · 2026

    Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).

high confidence · 93.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

14 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

10 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-26

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Propionic acidemia" OR "Ketotic hyperglycinemia" OR "Propionic aciduria" OR "Propionyl-CoA carboxylase deficiency" OR "GLYCINEMIA, ketotic"

Run this search on Europe PMC

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

"Propionic acidemia" OR "Ketotic hyperglycinemia" OR "Propionic aciduria" OR "Propionyl-CoA carboxylase deficiency" OR "GLYCINEMIA, ketotic" OR "PCCA" OR "PCCB"

Recall-expansion terms: PCCA, PCCB

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: 14 interventional · 10 observational · 0 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 2026-07-26T12:10:40.730Z