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ORPHA:247546

Acute neonatal citrullinemia type I

high confidenceSubtype of disorder

Also known as: Acute neonatal citrullinemia type 1 · Early-onset citrullinemia type 1 · Early-onset citrullinemia type I

Publications

4

13.3th percentile

Trials

0

Interventional, condition-specific

Researchers

13

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A severe form of citrullinemia type 1 characterized biologically by and clinically by lethargy, poor feeding and vomiting, and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

acute neonatal citrullinemia type 1 · classic citrullinemia type 1 · classic citrullinemia type I

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4 matched papers (2 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Neonatal onset) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

1

Associated phenotypes · MONDO:0016600

  • Neonatal onset

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4

4 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=3967) is 59.

4 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).

2 in the last 10 years · high confidence · 13.3th percentile (publications denominator)

Phrase hits: 4 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

13

Distinct author names in 4 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
    Alaimo S1 paper · 2018

    Bioinformatics Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  2. 02
    Barone R1 paper · 2018

    Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  3. 03
    Bastin J1 paper · 2018

    Sorbonne Paris Cité, Faculté des Sciences Fondamentales et Biomédicales, Université Paris Descartes, Paris, France.

    Papers in Europe PMC
  4. 04
    De Bie I1 paper · 2011

    Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montréal, QC, Canada, H3T-1C5, Isabelle.debie@muhc.mcgill.ca.

    Papers in Europe PMC
  5. 05
    Dow JA1 paper · 2010

    Institute of Cell, Molecular, and Systems Biology, College of Medical, Veterinary, and Life Sciences, Univ. of Glasgow, Glasgow G12 8QQ, UK. Julian.Dow@glasgow.ac.uk

    Papers in Europe PMC
  6. 06
    Ferro A1 paper · 2018

    Bioinformatics Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  7. 07
    Frye RE1 paper · 2018

    University of Arizona College of Medicine, Phoenix, AZ, United States.

    Papers in Europe PMC
  8. 08
    Lambert M1 paper · 2011
    Papers in Europe PMC
  9. 09
    Lemyre E1 paper · 2011
    Papers in Europe PMC
  10. 10
    Messina M1 paper · 2018

    Referral Centre for Inherited Metabolic Disorders, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    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.

high 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.

Broader category citrullinemia type I also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: citrullinemia type I

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Acute neonatal citrullinemia type I — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Urea cycle disorder as a category (Groups 1 and 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

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.

"Acute neonatal citrullinemia type I" OR "Acute neonatal citrullinemia type 1" OR "Early-onset citrullinemia type 1" OR "Early-onset citrullinemia type I" OR "classic citrullinemia type 1" OR "classic citrullinemia type I"

Run this search on Europe PMC

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

"Acute neonatal citrullinemia type I" OR "Acute neonatal citrullinemia type 1" OR "Early-onset citrullinemia type 1" OR "Early-onset citrullinemia type I" OR "classic citrullinemia type 1" OR "classic citrullinemia type I"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"citrullinemia type I"

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 2026-07-27T10:32:27.373Z