Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Orphanet Journal of Rare Diseases - Tập 14 Số 1 - 2019
Tzu-Hung Chu1, Yin‐Hsiu Chien2, Hsiang‐Yu Lin3, Hsuan-Chieh Liao4, Huey-Jane Ho5, Chih-Jou Lai6, Chuan-Chi Chiang4, Niang‐Cheng Lin7, Chia-Feng Yang8, Wuh‐Liang Hwu2, Ni‐Chung Lee2, Shuan-Pei Lin3, Chin-Su Liu7, Rey‐Heng Hu9, Ming‐Chih Ho9, D.‐M. Niu10
1Division of Genetics and Metabolism, Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
2Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
3Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
4Newborn Screening Center, The Chinese Foundation of Health, Taipei, Taiwan
5Section of Newborn screening, Taipei Institute of Pathology, Taipei, Taiwan
6Division of Rehabilitation, Department of Medical Affairs, Taipei Municipal Gan-Dau Hospital (Managed by Taipei Veterans General Hospital), Taipei, Taiwan
7Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General, Taipei, Taiwan
8Institute of Environmental And Occupational Health Sciences, Taipei, Taiwan
9Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan
10Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan

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Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, et al. Mutation and biochemical analysis of 19 probands with mut0 and 13 with Mut- methylmalonic aciduria: identification of seven novel mutations. Mol Genet Metab [Internet]. 2007;90:284–90 Available from: http://www.sciencedirect.com/science/article/pii/S1096719206003234 .

Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinical management update. CE Swati. 2016;28:682–93.

Kasahara M, Horikawa R, Tagawa M, Uemoto S, Yokoyama S, Shibata Y, et al. Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediatr Transplant. 2006;10:943–7.

Kayler LK, Merion RM, Lee S, Sung RS, Punch JD, Rudich SM, et al. Long-term survival after liver transplantation in children with metabolic disorders. Pediatr Transplant [Internet]. 2002;6:295–300 Available from: http://www.ncbi.nlm.nih.gov/pubmed/12234269 .

Mazariegos G, Shneider B, Burton B, FoxI J, Hadzic N, Kishnani P, et al. Liver transplantation for pediatric metabolic disease. Mol Genet Metab. 2014;111:418–27 Available from: http://dx.doi.org/10.1016/j.ymgme.2014.01.006.

Fagiuoli S, Daina E, D’Antiga L, Colledan M, Remuzzi G. Monogenic diseases that can be cured by liver transplantation. J Hepatol. 2013;59:595–612.

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis. 2010;33:1–11.

Morioka D, Kasahara M, Horikawa R, Yokoyama S, Fukuda A, Nakagawa A. Efficacy of living donor liver transplantation for patients with Methylmalonic Acidemia. Am J Transplant. 2007;7:2782.

Enns MW, Cox BJ, Parker JD, Guertin JE. Confirmatory factor analysis of the Beck anxiety and depression inventories in patients with major depression. J Affect Disord. 1998;47:195–200.

Beck AT, Brown G, Epstein N, Steer RA. An inventory for measuring clinical anxiety: psychometrical properties. J Consult ans Clincal Psychol. 1988;56:893–7 Available from: http://citeseerx.ist.psu.edu/viewdoc/download?doi=10.1.1.471.4319&rep=rep1&type=pdf .

Tseng MH, Wang CC, Yuh YS, Lai CC, Lin SH. Coma caused by methylmalonic acidemia in a Taiwanese girl. J Med Sci. 2010;30:055–9.

Stevenson T, Millan MT, Wayman K, Berquist WE, Sarwal M, Johnston EE, et al. Long-term outcome following pediatric liver transplantation for metabolic disorders. Pediatr Transplant. 2010;14:268–75.

Spada M, Calvo PL, Brunati A, Peruzzi L, Dell’Olio D, Romagnoli R, et al. Liver transplantation in severe methylmalonic acidemia: the sooner, the better. J Pediatr Elsevier Inc. 2015:1173 Available from: https://doi.org/10.1016/j.jpeds.2015.08.022 .

Sloan JL, Manoli I, Venditti CP. Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when? J Pediatr. 2015;166:1346–50 Available from: http://www.sciencedirect.com/science/article/pii/S0022347615002826 .

Kasahara M, Sakamoto S, Horikawa R, Koji U, Mizuta K, Shinkai M, et al. Living donor liver transplantation for pediatric patients with metabolic disorders: the Japanese multicenter registry. Pediatr Transplant. 2014;18:6–15 Available from: http://www.ncbi.nlm.nih.gov/pubmed/24283623 .

Li M, Dick A, Montenovo M, Horslen S, Hansen R. Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. Liver Transpl. 2015;21:1208–18 Available from: http://www.ncbi.nlm.nih.gov/pubmed/25990417 .

Perito ER, Rhee S, Roberts JP, Rosenthal P. Pediatric liver transplantation for urea cycle disorders and organic acidemias: united network for organ sharing data for 2002-2012. Liver Transplant. 2014;20:89–99.

Vernon HJ, Sperati CJ, King JD, Poretti A, Miller NR, Sloan JL, et al. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut0methylmalonic acidemia. J Inherit Metab Dis. 2014;37:899–907.

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, et al. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet. 2007;8:1–11.

Sakamoto R, Nakamura K, Kido J, Matsumoto S, Mitsubuchi H, Inomata Y, et al. Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. Pediatr Transplant. 2016;20:1081–6.

Arrizza C, DeGottardi A, Foglia E, Baumgartner M, Gautschi M, Nuoffer J-M. Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up. Transpl Int. 2015;28:1447–50 Available from: http://doi.wiley.com/10.1111/tri.12677 .

Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, deKeyzer Y, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr. 2010;156:128–34.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130 Available from: http://www.scopus.com/inward/record.url?eid=2-s2.0-84908138847&partnerID=tZOtx3y1 .

Han L-S, Huang Z, Han F, Ye J, Qiu W-J, Zhang H-W, et al. Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. World J Pediatr. 2015;11:358–65.

Liu MY, Liu TT, Yang YL, Chang YC, Fan YL, Lee SF, Teng YT, Chiang SH, Niu DM, Lin SJ, Chao MC, Lin SP, Han LS, Qi YHK. Mutation profile of the MUT gene in Chinese Methylmalonic aciduria patients. JIMD Rep. 2012;6:55–64.

Sakamoto O, Ohura T, Matsubara Y, Takayanagi M, Tsuchiya S. Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. J Hum Genet. 2007;52:48–55.

Lin NC, Wang HK, Yeh YC, Liu CP, Loong CC, Tsai HL, et al. Minimization or withdrawal of immunosuppressants in pediatric liver transplant recipients. J Pediatr Surg. 2015;50:2128–33 Available from: http://dx.doi.org/10.1016/j.jpedsurg.2015.08.043.

Gerster JC, Dudler M, Halkic M, Gillet M. Gout in liver transplant patients receiving tacrolimus. Ann Rheum Dis. 2004;63:894–5.

Charuvanij S, Pattaragarn A, Wisuthsarewong W, Vatanavicharn N. Juvenile gout in methylmalonic acidemia. Pediatr Int. 2016;58:501–3.

Niemi A-K, Kim IK, Krueger CE, Cowan TM, Baugh N, Farrell R, et al. Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. J Pediatr. 2015;166:1455–61 e1. Available from: http://www.sciencedirect.com/science/article/pii/S0022347615000980 .

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux J-B, Barbier V, Habarou F, et al. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis. 2013;8.

Chandler RJ, Venditti CP. Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno associated viral gene therapy. Mol Ther. 2010;18:11–6 Available from: http://dx.doi.org/10.1038/mt.2009.247.

An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, et al. Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. Cell Rep. 2017;21:3548–58 Available from: https://doi.org/10.1016/j.celrep.2017.11.081.

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Orphanet Journal of Rare Diseases

Tập 14 Số 1

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