Living with Infantile liver failure syndrome 1
A rare genetic disease with sudden liver failure in the first year of life, plus growth, muscle, and brain effects.
Understanding Infantile liver failure syndrome 1
It happens in the first year of life and can make the liver suddenly stop working. Symptoms include poor growth, weak muscles, delayed development, and seizures. Fatty liver, liver scarring, brain changes, and kidney tube problems (renal tubulopathy) can develop. Even minor illnesses can make the liver failure worse.
Signs & symptoms
Symptoms vary from person to person. GARD describes these:
- Poor growth
- Weak muscles
- Delayed development
- Seizures
- Abnormal liver tests
- Small red blood cells and high blood lactate
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 LARS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 LARS1 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: acute infantile liver failure-multisystemic involvement syndrome; ilfs1; infantile liver failure caused by mutation in lars; infantile liver failure syndrome type 1; lars infantile liver failure
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile liver failure syndrome 1.
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