acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome is a rare inherited condition. It is part of a group of disorders known as autosomal recessive cerebellar ataxias. This condition is linked to mutations in the SCYL1 gene, which means that people with two copies of the mutated gene may develop the disease. The condition is recognized by its name, which indicates involvement of the liver, cerebellum, and peripheral nerves. Although it is a rare disorder, the identification of the genetic mutation in SCYL1 has helped to better understand its biological basis.

The name of the condition suggests that people may experience acute liver failure during infancy along with difficulties with balance and coordination (cerebellar ataxia) and issues with peripheral nerve function that can affect movement and sensation. Detailed symptom information is limited in the available sources.

The condition is caused by mutations in the SCYL1 gene located on chromosome 11q13. It follows an autosomal recessive pattern, meaning that a person needs to inherit two copies of the abnormal gene, one from each parent, to develop the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about ongoing research and future directions is currently limited for this condition.