Overview
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the liver, brain, and nerves. The disease typically begins in infancy with a sudden episode of acute liver failure, which means the liver stops working properly and cannot perform its vital functions such as filtering toxins and producing important proteins. Children who survive this initial liver crisis may go on to develop cerebellar ataxia, which causes problems with balance, coordination, and walking due to damage to the cerebellum (the part of the brain that controls movement). Additionally, affected individuals develop peripheral sensorimotor neuropathy, meaning the nerves that carry signals between the brain and the arms and legs become damaged, leading to numbness, tingling, weakness, and difficulty with fine motor skills. This condition is caused by mutations in the SCYL1 gene and follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty copy of the gene from each parent. Because this disease is so rare, treatment options are currently limited to managing symptoms and providing supportive care. There is no cure at this time, and management focuses on addressing liver problems, supporting neurological function, and maintaining quality of life through rehabilitation therapies.
Also known as:
Key symptoms:
Sudden liver failure in infancyYellowing of the skin and eyes (jaundice)Poor balance and coordination (ataxia)Difficulty walkingNumbness or tingling in hands and feetMuscle weakness in arms and legsDifficulty with fine motor skillsLow muscle toneRecurrent episodes of liver problemsGrowth delaysDifficulty with speechFatigue and low energyAbnormal eye movementsWasting of muscles over time
Clinical phenotype terms (25)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's liver involvement, and what are the warning signs of another liver crisis?,What is the expected pace of neurological progression in my child's case?,Should we consider liver transplantation, and if so, when would that be appropriate?,What therapies (physical, occupational, speech) should we start now to help maintain function?,Are there any clinical trials or research studies my child might be eligible for?,Should other family members be tested for carrier status of the SCYL1 mutation?,What emergency plan should we have in place at home and at school?
Common questions about Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
What is Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome?
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the liver, brain, and nerves. The disease typically begins in infancy with a sudden episode of acute liver failure, which means the liver stops working properly and cannot perform its vital functions such as filtering toxins and producing important proteins. Children who survive this initial liver crisis may go on to develop cerebellar ataxia, which causes problems with balance, coordination, and walking due to damage
How is Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome inherited?
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome typically begin?
Typical onset of Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome is infantile. Age of onset can vary across affected individuals.