Living with Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
A temporary liver problem in babies tied to how cells make energy, with jaundice, vomiting, and feeding trouble.
Understanding Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
It affects liver function in newborns and infants. Test results can show high liver enzymes, high lactate, and trouble with blood clotting, which fits a problem with how cells make energy (mitochondrial function). With supportive care, people can recover from the acute episode and show normal development.
Signs & symptoms
Symptoms vary from baby to baby. GARD lists these among the most common:
- Sudden liver failure
- Yellowing of the skin and eyes (jaundice)
- Vomiting
- Swollen belly (abdominal bloating)
- Enlarged liver
- Trouble feeding
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TRMU are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TRMU gene cause this condition, which affects how cells make energy (mitochondrial function). A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins; infantile liver failure caused by mutation in trmu; lfit; liver failure acute infantile; liver failure, infantile, transient; liver failure, transient infantile
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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