Leigh syndrome associated with TRMU gene mutations

Area of Science:

• Biochemistry
• Genetics
• Pediatric Neurology

Background:

• tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency is a rare genetic disorder.
• It is known to cause acute liver failure, often reversible, in a limited number of patients.

Purpose of the Study:

• To report two novel, unrelated patients diagnosed with TRMU deficiency.
• To describe a previously unreported combination of acute liver failure and Leigh syndrome in TRMU deficiency.
• To broaden the understanding of the phenotypic spectrum associated with TRMU disease.

Main Methods:

• Clinical case presentation of two patients.
• Neuroimaging analysis.
• Genetic analysis for TRMU deficiency.

Main Results:

• Two new patients with TRMU deficiency were identified.
• Both patients presented with acute liver failure.
• Neuroimaging revealed findings consistent with Leigh syndrome in both patients.

Conclusions:

• The co-occurrence of acute liver failure and Leigh syndrome in TRMU deficiency is reported for the first time.
• This finding expands the known clinical and neurological manifestations of TRMU disease.
• TRMU deficiency should be considered in the differential diagnosis of unexplained acute liver failure, especially when neurological symptoms are present.