OMIM

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, hepatomegaly and feeding difficulties in infancy. An important gene associated with Liver Failure, Infantile, Transient is TRMU (TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase). Affiliated tissues include liver and skin.

UniProtKB/Swiss-Prot

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.

NIH Rare Diseases

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. Last updated: 2/29/2012