acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Findings
No curated finding names acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
Definition from the Mondo Disease Ontology (MONDO:0013111), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-hydroxydicarboxylic aciduriaHPOHP:0008160
- 13 of 13 reported patients
- Abdominal distentionHPOHP:0003270
- 13 of 13 reported patients
- Acute hepatic failureHPOHP:0006554
- 13 of 13 reported patients · Infantile onset
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 12 of 12 reported patients
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- 13 of 13 reported patients
- Feeding difficulties in infancy
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRMUHGNC:25481
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Also called
- acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteinsinfantile liver failure caused by mutation in TRMULFITliver failure, infantile, transientliver failure, transient infantiletransient infantile liver failureTRMU infantile liver failure