GTR Home > Conditions/Phenotypes > Liver failure acute infantile

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

18 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: MTO2, MTU1, TRMT, TRMT1, TRNT1, TRMU
    Summary: tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

Clinical features

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  • Abdominal distention
  • Hyperbilirubinemia
  • Increased serum lactate
  • Macrovesicular hepatic steatosis
  • Lactic acidosis
  • Feeding difficulties in infancy
  • Vomiting
  • Mitochondrial respiratory chain defects
  • Jaundice
  • Muscular hypotonia
  • Microvesicular hepatic steatosis
  • Hepatomegaly
  • Elevated hepatic transaminases
  • Abnormality of the coagulation cascade
  • Acute hepatic failure
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