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ORPHA:35

Propionic acidemia

high confidenceDisorder

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

Publications

7,327

94.7th percentile

Trials

12

Interventional, condition-specific

Researchers

1,297

Distinct authors in sample

Gene link

PCCA, PCCB

Definitive

Readiness

6/6

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.”

6/6 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

    7,327 matched papers (5,229 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Cerebellar hemorrhage; Short stature; Seizure) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. 2,2-dimethylbutanoic acid Source

  6. Interventional trialPresent

    12 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)

47

Associated phenotypes · MONDO:0011628

  • Cerebellar hemorrhage
  • Short stature
  • Seizure
  • Hepatomegaly
  • Failure to thrive

Showing 5 of 47 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA 2,2-dimethylbutanoic acidPropionic acidemia · 2020-12-10 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0011628

CTD chemicals (MyDisease.info)

4 associated chemicals · 19 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Sodium Benzoate · therapeutic
  • sodium carbonate · therapeutic
  • 2-methyl-2,3-butanediol · marker/mechanism
  • 2,3-pentanediol · marker/mechanism

Pathways: Valine, leucine and isoleucine degradation; Glyoxylate and dicarboxylate metabolism; Propanoate metabolism; Metabolic pathways; Carbon metabolism; Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA; Metabolism; Disease

MyDisease.info · MONDO:0011628

Literature

Is anyone studying this?

7,327

7,327 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,327 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).

5,229 in the last 10 years · high confidence · 94.7th percentile (publications denominator)

Phrase hits: 2,541 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,297

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 LR14 papers · 2026

    Centro de Biología Molecular Severo Ochoa, Universidad Autonoma de Madrid-Consejo Superior de Investigaciones Cientificas (UAM-CSIC), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Richard E14 papers · 2026

    Centro de Biología Molecular Severo Ochoa, Universidad Autonoma de Madrid-Consejo Superior de Investigaciones Cientificas (UAM-CSIC), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.

    Papers in Europe PMC
  3. 03
    Liu Y12 papers · 2026

    Department of Clinical Laboratory, China-Japan Friendship Hospital, Beijing, China.

    Papers in Europe PMC
  4. 04
    Chen X10 papers · 2026

    Surgical Research Lab, Department of Surgery, Cooper University Healthcare and Cooper Medical School of Rowan University, Camden, NJ 08103, USA; Coriell Institute for Medical Research, Camden, NJ 08103, USA; MD Anderson Cancer Center at Cooper, Camden, NJ 08103, USA. Electronic address: lchen@coriell.org.

    Papers in Europe PMC
  5. 05
    Zhang GF10 papers · 2026

    Duke Molecular Physiology Institute and Sarah W. Stedman Nutrition and Metabolism Center, Duke University Medical Center, Durham, NC 27701, USA; Department of Medicine, Division of Endocrinology, Metabolism Nutrition, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: Guofang.zhang@duke.edu.

    Papers in Europe PMC
  6. 06
    Zhang Y10 papers · 2026

    National Key Laboratory for Quality Ensurance and Sustainable Use of Dao-Di Herbs, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing, China.

    Papers in Europe PMC
  7. 07
    He W8 papers · 2026

    Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.

    Papers in Europe PMC
  8. 08
    Venditti CP8 papers · 2026

    National Human Genome Research Institute, Bethesda, Maryland, USA.

    Papers in Europe PMC
  9. 09
    Álvarez M7 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Wang Y7 papers · 2026

    School of Basic Medicine, Jining Medical University, Shandong 272067, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

high confidence · 93.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

12 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.

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 Propionic acidemia — check Associations / patient organisations on that page.

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") OR ("PCCA" OR "PCCA syndrome" OR "PCCA-related" OR "PCCB" OR "PCCB syndrome" OR "PCCB-related")

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"

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: 12 interventional · 10 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 2026-07-26T12:10:40.730Z