Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome
Abstract Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing on symptomatic management, and the clinical prognosi...
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| Format: | Article |
| Language: | English |
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BMC
2024-12-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03487-1 |
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| _version_ | 1850103128358125568 |
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| author | Jing Zhao Lian Chen Ni Wang Xin-bao Xie |
| author_facet | Jing Zhao Lian Chen Ni Wang Xin-bao Xie |
| author_sort | Jing Zhao |
| collection | DOAJ |
| description | Abstract Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing on symptomatic management, and the clinical prognosis remains poor. Here, we describe a novel case of TFAM mutation presenting with progressive neonatal cholestasis, hypoglycemia and abnormal amino acid profiling. The patient progressed to liver failure at 6 months of age but did not exhibit neurological involvement. No morphologic abnormalities were observed in muscle biopsy, while mtDNA copy number was reduced in comparison to age- and tissue-matched controls. After liver transplantation, liver biochemistries and blood amino acid profiling normalized three weeks later. Moreover, the boy was doing well post-transplant without any clinical concerns, and his development and neurological examination remain normal 33 months after liver transplantation. Our report suggests that liver transplantation appears to have a favorable profile in such patients. |
| format | Article |
| id | doaj-art-dfeb29bdcd4b466e8c2f0a69f810f954 |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-dfeb29bdcd4b466e8c2f0a69f810f9542025-08-20T02:39:37ZengBMCOrphanet Journal of Rare Diseases1750-11722024-12-011911410.1186/s13023-024-03487-1Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndromeJing Zhao0Lian Chen1Ni Wang2Xin-bao Xie3The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan UniversityDepartment of Pathology, Children’s Hospital of Fudan UniversityThe Third Affiliated Hospital of Zunyi Medical UniversityThe Center for Pediatric Liver Diseases, Children’s Hospital of Fudan UniversityAbstract Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing on symptomatic management, and the clinical prognosis remains poor. Here, we describe a novel case of TFAM mutation presenting with progressive neonatal cholestasis, hypoglycemia and abnormal amino acid profiling. The patient progressed to liver failure at 6 months of age but did not exhibit neurological involvement. No morphologic abnormalities were observed in muscle biopsy, while mtDNA copy number was reduced in comparison to age- and tissue-matched controls. After liver transplantation, liver biochemistries and blood amino acid profiling normalized three weeks later. Moreover, the boy was doing well post-transplant without any clinical concerns, and his development and neurological examination remain normal 33 months after liver transplantation. Our report suggests that liver transplantation appears to have a favorable profile in such patients.https://doi.org/10.1186/s13023-024-03487-1MtDNA depletion syndromeLiver transplantationTFAMNeonatal liver failure |
| spellingShingle | Jing Zhao Lian Chen Ni Wang Xin-bao Xie Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome Orphanet Journal of Rare Diseases MtDNA depletion syndrome Liver transplantation TFAM Neonatal liver failure |
| title | Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome |
| title_full | Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome |
| title_fullStr | Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome |
| title_full_unstemmed | Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome |
| title_short | Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome |
| title_sort | liver transplantation in a boy with tfam mutation associated mtdna depletion syndrome |
| topic | MtDNA depletion syndrome Liver transplantation TFAM Neonatal liver failure |
| url | https://doi.org/10.1186/s13023-024-03487-1 |
| work_keys_str_mv | AT jingzhao livertransplantationinaboywithtfammutationassociatedmtdnadepletionsyndrome AT lianchen livertransplantationinaboywithtfammutationassociatedmtdnadepletionsyndrome AT niwang livertransplantationinaboywithtfammutationassociatedmtdnadepletionsyndrome AT xinbaoxie livertransplantationinaboywithtfammutationassociatedmtdnadepletionsyndrome |