Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Definition
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.
Also known as 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, liver failure, transient infantile, transient infantile liver failure, TRMU infantile liver failure — per MONDO