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

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

Rare Disease

MONDO:0013111

Also Known As

acute infantile liver failureLFITTRMU infantile liver failureacute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteinsacute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsinfantile liver failure caused by mutation in TRMUliver failure, infantile, transientliver failure, transient infantiletransient infantile liver failure

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.