Liver Failure, Infantile, Transient (LFIT)

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OMIM 57 613070 Orphanet 59 ORPHA217371 ICD10 via Orphanet 34 K72.0 MedGen 42 C3278664 C2751567

MeSH 44 D017093 SNOMED-CT via HPO 69 258211005 18165001 249497008 300359004 422400008 80515008 26165005 166603001 166643006 75183008 190882007 91273001 362970003 64779008 41931001 60728008 197270009 235884008 more UMLS 73 C3278664

OMIM : ⁵⁷ 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. (613070)

MalaCards based summary : Liver Failure, Infantile, Transient, also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins, is related to infantile liver failure syndrome 1 and infantile liver failure syndrome 2, and has symptoms including vomiting and icterus. An important gene associated with Liver Failure, Infantile, Transient is TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase). Affiliated tissues include liver and skin, and related phenotypes are hepatomegaly and feeding difficulties in infancy

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 217371Disease definitionAcute 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁵ Liver failure, infantile, transient: A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence.

Clinical features from OMIM:

613070

Search Clinical Trials , NIH Clinical Center for Liver Failure, Infantile, Transient

Search GEO for disease gene expression data for Liver Failure, Infantile, Transient.