[MIM 613 070]

acronym for Liver Failure, Infantile, Transient.

Extremely rare, but seems to be more frequent in the Jewish population of Yemenite origin. Autosomal recessive or biallelic transmission of pathogenic variants of the nuclear TRMU gene (22q13.31), coding for mitochondrial tRNA-specific 2-thiouridylase-1. These mutations impair the translation of mtDNA-dependent complexes, leading to combined respiratory chain deficiencies. The most frequent clinical presentation is transient acute liver failure (hypoglycemia, hyperlactatemia, hyperammonemia, hepatomegaly) between 1 and 6 months of age. Surviving infants have a favorable outcome, with progressive normalization of liver function. Muscular (33 %) or cardiac (dilated cardiomyopathy) involvement is possible. A presentation similar to Leigh syndrome (see this term) is possible.

Treatment: supportive therapy and liver transplantation in case of unfavorable evolution, unless neurological involvement is demonstrated.

Anesthetic implications: 

management of acute liver failure, mitochondrial cytopathies (see this term).

References : 

-        Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M et al.
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 
J Med Genet 2011; 48: 660-8

Updated: January 2025