1 Rahman S. Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis. 2013;36:659–73.
2 El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. BBA-Mol Basis Dis. 2017;1863:1539–55.
3 El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, et al. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mut. 2018;39:461–70.
4 El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013;10:186–98.
5 Nishimura N, Kasahara M, Ishikura K, Nakagawa S. Current status of pediatric transplantation in Japan. J Intensive Care. 2017;5:48.
6 Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr. 2013;163:942–8.
7 Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, et al. Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome. Pediatr Int. 2014;56:180–7.
8 Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, et al. Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. Mol Genet Metab. 2009;97:292–6.
9 Sasaki K, Sakamoto S, Uchida H, Narumoto S, Shigeta T, Fukuda A, et al. Liver Transplantation for Mitochondrial Respiratory Chain Disorder: A Single-Center Experience and Excellent Marker of Differential Diagnosis. Transpl P. 2017;49:1097–102.
10 Umetsu S, Inui A, Kobayashi S, Shimura M, Uehara T, Uchida H, et al. First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W: a case report. Hepatoma Res. 2020;6.
11 Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Meth Cell Biol. 2007;80:93–119.
12 Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406–11.
13 Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, et al. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Rep. 2006;21:2467–73.
14 Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis. 2009;32:143–58.
15 Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, et al. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. J Pediatr. 2014;164:553–9.e1–2.
16 Yang RF, Sun LH, Zhang R, Zhang Y, Luo YX, Zheng W, et al. Suppression of Mic60 compromises mitochondrial transcription and oxidative phosphorylation. Sci Rep. 2015;5:7990.
17 Genin EC, Plutino M, Bannwarth S, Villa E, Cisneros-Barroso E, Roy M, et al. CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis. EMBO Mol Med. 2016;8:58–72.
18 Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, et al. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases. Neurobiol Dis. 2018;119:159–71.
19 Kim J, Kang E, Kim Y, Kim JM, Lee BH, Murayama K, et al. MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab Rep. 2016;8:74–6.
20 Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Amer J Hum Genet. 2006;79:544–8.
21 Squires RH, Ng V, Romero R, Ekong U, Hardikar W, Emre S, et al. Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the American Association for the Study of Liver Diseases, American Society of Transplantation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Hepatol. 2014;60:362–98.
22 Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, et al. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. Liver Transpl. 2014;20:464–72.
23 Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, et al. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016;118:178–84.
24 Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19:12.
25 Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, et al. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet. 2014;22:184–91.
26 Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, et al. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol. 2009;50:215–21.
27 Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatol. 2007;46:1218–27.
28 Navarro-Sastre A, Martin-Hernandez E, Campos Y, Quintana E, Medina E, de Las Heras RS, et al. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form. Mol Genet Metab. 2008;94:234–9.
29 El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010;99:300–8.
30 Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, et al. Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. Mol Genet Metab. 2012;105:228–36.
31 Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, et al. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol. 2014;61:1056–63.
32 Bray AW, Ballinger SW. Mitochondrial DNA mutations and cardiovascular disease. Curr Opin Cardiol. 2017; doi:10.1097/HCO.0000000000000383.
33 Culley MK, Chan SY. Mitochondrial metabolism in pulmonary hypertension: beyond mountains there are mountains. J Clin Invest. 2018;128:3704–15