MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome
| العنوان: | MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome |
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| المؤلفون: | Byung Chan Lim, Ki Teak Hong, Jae Sung Ko, Jin Soo Moon |
| المصدر: | The Korean Journal of Gastroenterology, Vol 77, Iss 5, Pp 248-252 (2021) |
| بيانات النشر: | The Korean Society of Gastroenterology, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Mitochondrial DNA, Pathology, medicine.medical_specialty, medicine.medical_treatment, Liver transplantation, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, MPV17, Exome sequencing, business.industry, General Medicine, Jaundice, medicine.disease, mpv17 protein, 030220 oncology & carcinogenesis, Lactic acidosis, Mitochondrial DNA depletion syndrome, Failure to thrive, Medicine, 030211 gastroenterology & hepatology, hepatocerebral form, medicine.symptom, business, mitochondrial dna depletion syndrome |
| الوصف: | Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. MPV17 is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral mtDNA depletion syndrome is a rare autosomal recessive disease. This case report describes the clinical manifestations of MPV17-related hepatocerebral mtDNA depletion syndrome analyzed by performing whole-exome sequencing (WES). A 17-month-old girl presented with developmental delay, jaundice, and failure to thrive. The laboratory findings revealed cholestatic hepatitis, increased lactate-to-pyruvate ratio, and prolongation of the prothrombin time. She developed a hypoglycemic seizure. Brain magnetic resonance imaging revealed extensive demyelination of the white matter. WES detected the p.Leu151fs and p.Pro98Leu variants in MPV17. Her parents and sibling were found to be MPV17 heterozygous carriers. She was administered supportive treatment, such as replacement of fat-soluble vitamins and cornstarch to prevent further hypoglycemic events. The patient is currently being considered for liver transplantation. Overall, WES can help diagnose hepatocerebral mtDNA depletion syndrome in patients with hepatopathy, developmental delay, lactic acidosis, and hypomyelination based on brain magnetic resonance imaging. |
| تدمد: | 2233-6869 1598-9992 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c2f72839cc3d2673f93614a796f19d https://doi.org/10.4166/kjg.2020.170 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....79c2f72839cc3d2673f93614a796f19d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22336869 15989992 |
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