Acute Infantile Liver Failure (TRMU)

Acute infantile liver failure is an autosomal recessive disease caused by pathogenic variants in the TRMU gene. Due to a founder mutation, it is more common in Sephardic Jewish individuals from Yemen, although the condition has been reported in other ethnicities. The disease presents in infancy as poor feeding, vomiting, jaundice, irritability, and reduced activity. Liver dysfunction can result in transient liver failure. If patients survive the episodes of acute liver failure, development can be normal. Although few patients have been reported, it has been suggested that individuals with two missense variants have a better clinical prognosis than patients with a frameshift or splice site variant.

For information about carrier frequency and residual risk, please see the residual risk table.