Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

From BugSigDB


Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
Aliases
  • acute infantile liver failure
  • Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
  • acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
  • acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • infantile liver failure caused by mutation in TRMU
  • LFIT
  • liver failure, infantile, transient
  • transient infantile liver failure
  • TRMU infantile liver failure