Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation

Rahul Deshmukh; Alpana Kondekar; Vishal Sawant; Pravin M Rathi

doi:10.24911/JBCGenetics/183-1600718816

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Case Report
Online Published: 14 Dec 2020

JBCGenetics. 2021; 4(1): 64-67

doi: 10.24911/JBCGenetics/183-1600718816

Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation

Rahul Deshmukh, Alpana Kondekar, Vishal Sawant, Pravin M Rathi.

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.

Key words: Infantile mitochondrial hepatopathy, TRMU, Hepatic failure, spontaneous recovery, case report

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Pubmed Style

Deshmukh R, Kondekar A, Sawant V, Rathi PM. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBCGenetics. 2021; 4(1): 64-67. doi:10.24911/JBCGenetics/183-1600718816

Web Style

Deshmukh R, Kondekar A, Sawant V, Rathi PM. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. https://www.jbcgenetics.com/?mno=136868 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1600718816

AMA (American Medical Association) Style

Deshmukh R, Kondekar A, Sawant V, Rathi PM. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBCGenetics. 2021; 4(1): 64-67. doi:10.24911/JBCGenetics/183-1600718816

Vancouver/ICMJE Style

Deshmukh R, Kondekar A, Sawant V, Rathi PM. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBCGenetics. (2021), [cited November 14, 2024]; 4(1): 64-67. doi:10.24911/JBCGenetics/183-1600718816

Harvard Style

Deshmukh, R., Kondekar, . A., Sawant, . V. & Rathi, . P. M. (2021) Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. JBCGenetics, 4 (1), 64-67. doi:10.24911/JBCGenetics/183-1600718816

Turabian Style

Deshmukh, Rahul, Alpana Kondekar, Vishal Sawant, and Pravin M Rathi. 2021. Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. Journal of Biochemical and Clinical Genetics, 4 (1), 64-67. doi:10.24911/JBCGenetics/183-1600718816

Chicago Style

Deshmukh, Rahul, Alpana Kondekar, Vishal Sawant, and Pravin M Rathi. "Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation." Journal of Biochemical and Clinical Genetics 4 (2021), 64-67. doi:10.24911/JBCGenetics/183-1600718816

MLA (The Modern Language Association) Style

Deshmukh, Rahul, Alpana Kondekar, Vishal Sawant, and Pravin M Rathi. "Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation." Journal of Biochemical and Clinical Genetics 4.1 (2021), 64-67. Print. doi:10.24911/JBCGenetics/183-1600718816

APA (American Psychological Association) Style

Deshmukh, R., Kondekar, . A., Sawant, . V. & Rathi, . P. M. (2021) Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation. Journal of Biochemical and Clinical Genetics, 4 (1), 64-67. doi:10.24911/JBCGenetics/183-1600718816

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