Case Report
Volume: 4 | Issue: 1 | Published: Dec 14, 2020 | Pages: 64 - 67 | DOI: 10.24911/JBCGenetics/183-1600718816
Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation
Authors: Rahul Deshmukh , Alpana Kondekar , Vishal Sawant , Pravin M Rathi
Article Info
Authors
Rahul Deshmukh
Department of Gastroenterology, Topiwala National Medical College, BYL Nair Ch Hospital, Maharashtra, India
Alpana Kondekar
Associate professor, Department of Paediatrics, Topiwala National Medical College, BYL Ch Hospital, Maharashtra, India
Vishal Sawant
Assistant professor, Department of Paediatrics, Topiwala National Medical College, BYL Ch Hospital, Maharashtra, India
Pravin M Rathi
Professor and Head of the Department, Gastroenterology, Topiwala National Medical College, BYL Ch Hospital, Maharashtra, India
Publication History
Received: September 21, 2020
Revised: October 27, 2020
Accepted: November 13, 2020
Published: December 14, 2020
Abstract
Background: Depending on the genetic mutation, mitochondrial hepatopathy has a variable presentation. Spontaneous recovery is a rare occurrence in these patients. However, complete recovery is possible in infants having t-RNA5-methylaminomethyl-2-thiouridylate methyl-transferase (TRMU) gene mutation. Case presentation: A 53-day-old female child presented with hepatopathy and lactic acidosis. Genetic work up showed she has a mitochondrial respiratory chain disorder due to the TRMU gene mutation. Very few patients with isolated hepatic involvement have been described in the literature. We are reporting the first case from India of transient hepatopathy due to heterozygous TRMU gene mutation. Recovery was spontaneous at 4 months of age. Conclusion: Complete recovery is possible in infants having TRMU mutation if they are supported through and survive the acute phase. The identification of TRMU mutation could impact clinical management.
Keywords: Infantile mitochondrial hepatopathy, TRMU, Hepatic failure, spontaneous recovery, case report
