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

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Description

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.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

102

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Genes

External Links

  • OMIM

    613070

  • Orphanet

    217371

  • HPO
  • Medgen

    C3278664

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