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Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
rareAcute 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.
- Identifiers
- MONDO:0013111 OMIM:613070Orphanet:217371
- Causal genes
- TRMU
- Also known as
- acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins · infantile liver failure caused by mutation in TRMU · LFIT · liver failure, infantile, transient · liver failure, transient infantile
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