JBCGenetics |

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

Pubmed Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBC Genetics. 2020; 14 (December 2020): 64-67. doi:10.24911/JBCGenetics/183-1600718816

Web Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. https://www.jbcgenetics.com/articles/2132 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1600718816

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBC Genetics. (2020), [cited April 27, 2025]; 14 (December 2020): 64-67. doi:10.24911/JBCGenetics/183-1600718816

Harvard Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi (2020) Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBC Genetics, 14 (December 2020): 64-67. doi:10.24911/JBCGenetics/183-1600718816

Chicago Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi. "Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation." 14 (2020), 64-67. doi:10.24911/JBCGenetics/183-1600718816

MLA (The Modern Language Association) Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi. "Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation." 14.December 2020 (2020), 64-67. Print. doi:10.24911/JBCGenetics/183-1600718816

APA (American Psychological Association) Style

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi (2020) Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. , 14 (December 2020), 64-67. doi:10.24911/JBCGenetics/183-1600718816