Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation
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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2021-06-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=136868 |
| _version_ | 1797816599555604480 |
|---|---|
| author | Rahul Deshmukh Alpana Kondekar Vishal Sawant Pravin M Rathi |
| author_facet | Rahul Deshmukh Alpana Kondekar Vishal Sawant Pravin M Rathi |
| author_sort | Rahul Deshmukh |
| collection | DOAJ |
| description | 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. [JBCGenetics 2021; 4(1.000): 64-67] |
| first_indexed | 2024-03-13T08:41:01Z |
| format | Article |
| id | doaj.art-60034fc8885548b6beab865ef7e51409 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:01Z |
| publishDate | 2021-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-60034fc8885548b6beab865ef7e514092023-05-30T11:50:20ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2021-06-0141646710.24911/JBCGenetics/183-1600718816136868Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutationRahul Deshmukh0Alpana Kondekar1Vishal Sawant2Pravin M Rathi3Department of Gastroenterology, Topiwala National Medical College, BYL Nair Ch Hospital, Maharashtra, India Associate professor, Department of Paediatrics, Topiwala National Medical College, BYL Ch Hospital, Maharashtra, India Assistant professor, Department of Paediatrics, Topiwala National Medical College, BYL Ch Hospital, Maharashtra, India Professor and Head of the Department, Gastroenterology, Topiwala National Medical College, BYL Ch Hospital, Maharashtra, IndiaBackground: 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. [JBCGenetics 2021; 4(1.000): 64-67]http://www.ejmanager.com/fulltextpdf.php?mno=136868infantile mitochondrial hepatopathytrmuhepatic failurespontaneous recoverycase report |
| spellingShingle | Rahul Deshmukh Alpana Kondekar Vishal Sawant Pravin M Rathi Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation Journal of Biochemical and Clinical Genetics infantile mitochondrial hepatopathy trmu hepatic failure spontaneous recovery case report |
| title | Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation |
| title_full | Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation |
| title_fullStr | Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation |
| title_full_unstemmed | Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation |
| title_short | Spontaneous recovery in infantile mitochondrial hepatopathy due to TRMU gene mutation |
| title_sort | spontaneous recovery in infantile mitochondrial hepatopathy due to trmu gene mutation |
| topic | infantile mitochondrial hepatopathy trmu hepatic failure spontaneous recovery case report |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=136868 |
| work_keys_str_mv | AT rahuldeshmukh spontaneousrecoveryininfantilemitochondrialhepatopathyduetotrmugenemutation AT alpanakondekar spontaneousrecoveryininfantilemitochondrialhepatopathyduetotrmugenemutation AT vishalsawant spontaneousrecoveryininfantilemitochondrialhepatopathyduetotrmugenemutation AT pravinmrathi spontaneousrecoveryininfantilemitochondrialhepatopathyduetotrmugenemutation |