Transient infantile liver failure (LFIT) is a condition that affects the liver due to a reduced amount of a specific protein used by the cell’s energy generators, called mitochondria.
Symptoms of LFIT appear before the age of 6 months and include jaundice, vomiting, difficulty in feeding, an enlarged liver, liver failure, problems with blood clotting, and weak muscle tone. These symptoms are serious and require hospitalization for intensive care. Treatment for LFIT is mainly supportive, using blood products and nutritional supplements to aid blood clotting and mitochondrial function. Early detection appears to enhance the chances of a better outcome.
LFIT is caused by pathogenic (disease-causing) variants in the TRMU gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 34 chance to be a carrier.