North American Indian childhood cirrhosis (original) (raw)

North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an autosomal recessive abnormality of the UTP4 gene, which codes for cirhin. NAIC is a ribosomopathy. An R565W mutation of UTP4 leads to partial impairment of cirhin interaction with . Initial transient neonatal jaundice advances over time to biliary cirrhosis with severe liver fibrosis. Eventually, liver failure occurs, and requires liver transplantation.