MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome
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...
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| Format: | Article |
| Language: | English |
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Jin Publishing & Printing Co.
2021-05-01
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| Series: | The Korean Journal of Gastroenterology |
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| Online Access: | http://www.kjg.or.kr/journal/view.html?uid=5706&vmd=Full |
| _version_ | 1818653102934327296 |
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| author | Ki Teak Hong Byung Chan Lim Jin Soo Moon Jae Sung Ko |
| author_facet | Ki Teak Hong Byung Chan Lim Jin Soo Moon Jae Sung Ko |
| author_sort | Ki Teak Hong |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T02:32:34Z |
| format | Article |
| id | doaj.art-4bb649f7e3344ecd871657ccf67f14a8 |
| institution | Directory Open Access Journal |
| issn | 1598-9992 2233-6869 |
| language | English |
| last_indexed | 2024-12-17T02:32:34Z |
| publishDate | 2021-05-01 |
| publisher | Jin Publishing & Printing Co. |
| record_format | Article |
| series | The Korean Journal of Gastroenterology |
| spelling | doaj.art-4bb649f7e3344ecd871657ccf67f14a82022-12-21T22:06:56ZengJin Publishing & Printing Co.The Korean Journal of Gastroenterology1598-99922233-68692021-05-0177524825210.4166/kjg.2020.170MPV17-related Hepatocerebral Mitochondrial DNA Depletion SyndromeKi Teak Hong0Byung Chan Lim1Jin Soo Moon2Jae Sung Ko3https://orcid.org/0000-0002-3064-2974Department of Pediatrics, Seoul National University College of Medicine, Seoul, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, KoreaMitochondrial 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.http://www.kjg.or.kr/journal/view.html?uid=5706&vmd=Fullmpv17 proteinmitochondrial dna depletion syndromehepatocerebral formwhole exome sequencing |
| spellingShingle | Ki Teak Hong Byung Chan Lim Jin Soo Moon Jae Sung Ko MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome The Korean Journal of Gastroenterology mpv17 protein mitochondrial dna depletion syndrome hepatocerebral form whole exome sequencing |
| title | MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome |
| title_full | MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome |
| title_fullStr | MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome |
| title_full_unstemmed | MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome |
| title_short | MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome |
| title_sort | mpv17 related hepatocerebral mitochondrial dna depletion syndrome |
| topic | mpv17 protein mitochondrial dna depletion syndrome hepatocerebral form whole exome sequencing |
| url | http://www.kjg.or.kr/journal/view.html?uid=5706&vmd=Full |
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