ORPHA:217371
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Also known as: Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Publications
568
Trials
0
Interventional, condition-specific
Researchers
399
Distinct authors in sample
Gene link
TRMU
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare respiratory chain deficiency due to TRMU deficiency leading to tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013111
- OMIM:613070
- UMLS:C3278664
Additional Mondo synonyms (8)
LFIT · TRMU infantile liver failure · acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins · acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins · infantile liver failure caused by mutation in TRMU · liver failure, infantile, transient · liver failure, transient infantile · transient infantile liver failure
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — TRMU
- LiteraturePresent
568 matched papers (355 in last 10 years) Source
- Phenotype characterisedPresent
23 HPO annotations (e.g. Irritability; Feeding difficulties in infancy; Hypoalbuminemia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 1 for broader category infantile liver failure
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 (TRMU).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
23
Associated phenotypes · MONDO:0013111
- Irritability
- Feeding difficulties in infancy
- Hypoalbuminemia
- Elevated circulating alanine aminotransferase concentration
- Lacticaciduria
Showing 5 of 23 — open Monarch for the full list.
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?
568
568 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=3967) is 59.
568 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).
355 in the last 10 years · low confidence
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
399
Distinct author names in 30 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.
- 01Scaglia F3 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 02Taylor RW3 papers · 2024
Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.
Papers in Europe PMC - 03Bijarnia-Mahay S2 papers · 2026
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Papers in Europe PMC - 04Burnytė B2 papers · 2024
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Papers in Europe PMC - 05Elsea SH2 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 06Freisinger P2 papers · 2024
Childrens Hospital, Klinikum Reutlingen, Reutlingen, Germany.
Papers in Europe PMC - 07Ganetzky R2 papers · 2025
Center for Computational Genomic Medicine and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 08Glinton KE2 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 09Iwanicka-Pronicka K2 papers · 2024
Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 10Liu N2 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
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). 1 trial are registered for infantile liver failure, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
low 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.
1 interventional trial matched infantile liver failure, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: infantile liver failure
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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 infantile liver failure due to synthesis defect of mtDNA-encoded proteins — check Associations / patient organisations on that page.
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.
("Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" OR "Acute infantile liver failure due to synthesis defect of the mtDNA-encoded proteins" OR "Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" OR "Acute infantile liver failure due to synthesis defect of the mitochondrial DNA-encoded proteins" OR "TRMU infantile liver failure" OR "infantile liver failure caused by mutation in TRMU" OR "liver failure, infantile, transient" OR "liver failure, transient infantile" OR "transient infantile liver failure") OR ("TRMU" OR "TRMU syndrome" OR "TRMU-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" OR "Acute infantile liver failure due to synthesis defect of the mtDNA-encoded proteins" OR "Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" OR "Acute infantile liver failure due to synthesis defect of the mitochondrial DNA-encoded proteins" OR "TRMU infantile liver failure" OR "infantile liver failure caused by mutation in TRMU" OR "liver failure, infantile, transient" OR "liver failure, transient infantile" OR "transient infantile liver failure"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"infantile liver failure"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LFIT
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (568) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:49:43.938Z