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GTR Home > Conditions/Phenotypes > Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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

Synonyms
LIVER FAILURE, INFANTILE, TRANSIENT; Liver failure acute infantile
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder. A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880). See ILFS1 (615438) for information on syndromic infantile liver failure. [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LCAL3, MTO2, MTU1, TRMT, TRMT1, TRMU
    Summary: tRNA mitochondrial 2-thiouridylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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