Fever-associated acute infantile liver failure syndrome

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ORPHA:464724OMIM:616483K72.0
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Overview

Fever-associated acute infantile liver failure syndrome (also known as FIALF or infantile liver failure syndrome type 2) is a very rare and serious genetic condition that affects the liver in young children, typically triggered by a common fever or viral illness. In this condition, the liver suddenly stops working properly when a baby or young child develops a fever, even from a mild infection. The liver is a vital organ that helps the body process nutrients, remove toxins, and make important proteins for blood clotting. When the liver fails, toxins can build up in the body, bleeding problems can occur, and other organs may be affected. The disease is caused by mutations in the NBAS gene, which plays a role in transporting proteins within cells. Children with this condition may experience repeated episodes of acute liver failure during febrile illnesses, especially in the first few years of life. Symptoms during an episode include yellowing of the skin and eyes (jaundice), vomiting, lethargy, poor feeding, and abnormal bleeding. Between episodes, liver function may return to normal or near-normal in many cases. Treatment is mainly supportive and focuses on managing liver failure episodes aggressively, including early fever control, intravenous fluids, glucose supplementation, and sometimes intensive care. In severe cases, liver transplantation may be considered. Early recognition and prompt treatment of febrile episodes are critical to improving outcomes. Some children also have additional features such as short stature, skeletal abnormalities, and immune system differences.

Key symptoms:

Sudden liver failure triggered by fever or infectionYellowing of the skin and eyes (jaundice)VomitingExtreme tiredness or lethargyPoor feeding or refusal to eatAbnormal bleeding or easy bruisingLow blood sugarSwelling of the liverShort stature or growth problemsSkeletal abnormalitiesRecurrent episodes of liver crisisElevated liver enzymes in blood testsReduced alertness or confusion during episodesImmune system problems or frequent infections

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Fever-associated acute infantile liver failure syndrome.

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No actively recruiting trials found for Fever-associated acute infantile liver failure syndrome at this time.

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No specialists are currently listed for Fever-associated acute infantile liver failure syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Fever-associated acute infantile liver failure syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What should I do at the very first sign of a fever in my child?,What are the specific warning signs that mean I should go to the emergency room?,How often should my child have liver function tests and other monitoring?,Are there any medications or supplements my child should avoid?,Should my child receive any special vaccinations or avoid certain vaccines?,At what point would liver transplantation be considered?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Fever-associated acute infantile liver failure syndrome

What is Fever-associated acute infantile liver failure syndrome?

Fever-associated acute infantile liver failure syndrome (also known as FIALF or infantile liver failure syndrome type 2) is a very rare and serious genetic condition that affects the liver in young children, typically triggered by a common fever or viral illness. In this condition, the liver suddenly stops working properly when a baby or young child develops a fever, even from a mild infection. The liver is a vital organ that helps the body process nutrients, remove toxins, and make important proteins for blood clotting. When the liver fails, toxins can build up in the body, bleeding problems

How is Fever-associated acute infantile liver failure syndrome inherited?

Fever-associated acute infantile liver failure syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Fever-associated acute infantile liver failure syndrome typically begin?

Typical onset of Fever-associated acute infantile liver failure syndrome is infantile. Age of onset can vary across affected individuals.