Disease association ontology term - MONDO:0013111 - acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Term summary
- ID
- MONDO:0013111
- Name
- acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Ontology or CV name
- Disease association
- 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.
