transient infantile liver failure

A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene,

A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13.

Signs and symptoms

• Hepatomegaly
• Hypoalbuminemia
• Abdominal distention
• Elevated circulating alanine aminotransferase concentration
• Prolonged prothrombin time
• Irritability
• Mitochondrial respiratory chain defects
• Feeding difficulties in infancy
• Lacticaciduria
• Acute hepatic failure