Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
권호 표지
DOI QR코드

DOI QR Code

Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia

  • Jang, Jae Guk (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Oh, Seak Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Yu Bin (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Seo Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Namgoong, Jung-Man (Department of Pediatric Surgery, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Dae Yeon (Department of Pediatric Surgery, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Ki-Hun (Department of Pediatric Surgery, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Song, Gi-Won (Division of Hepato-Biliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Moon, Deok-Bog (Division of Hepato-Biliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Hwang, Shin (Division of Hepato-Biliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Sung-Gyu (Division of Hepato-Biliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Kyung Mo (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • Received : 2019.09.26
  • Accepted : 2021.02.02
  • Published : 2021.05.15
Download PDF
⟨ Previous Next ⟩

Abstract

Purpose: Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent disease progression. We investigated the efficacy of living donor LT (LDLT) with a potential carrier of MMA and a small volume of graft in patients with MMA as an alternative to DDLT. Methods: Of five patients (three male, two female; median age 5.7 years; range, 1.3-13.7 years), four underwent carrier LDLT, while one underwent non-carrier auxiliary LDLT. All patients received pre- and post-LT continuous renal replacement therapy and were provided with minimal restriction diet according to serum MMA level after LT. MMA levels in the serum and urine, the incidence of metabolic crisis, and clinical findings before and after LT were compared. Results: The survival rate was 100% during 2.2 years of follow up period after LT. In all five cases, MMA titer in the serum after transplantation decreased with less restrictive diet. Metabolic crisis was not observed during the follow-up period. In addition, no patient showed progression of severe renal impairment requiring hemodialysis. Progression of delayed cognitive development was not observed. Social functioning with improved neuropsychiatric development was observed. Conclusion: This study showed that LDLT achieved improved quality of life with less restrictive diet, therefore it could be a feasible alternative option to DDLT for the treatment of patients with MMA, even with an auxiliary LT.

Keywords

References

  1. Baumgartner MR, Horster 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. https://doi.org/10.1186/s13023-014-0130-8
  2. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008;31:350-60. https://doi.org/10.1007/s10545-008-0839-4
  3. Horster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007;62:225-30. https://doi.org/10.1203/PDR.0b013e3180a0325f
  4. Oishi K, Arnon R, Wasserstein MP, Diaz GA. Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, and perioperative management. Pediatr Transplant 2016;20:756-69. https://doi.org/10.1111/petr.12741
  5. Kim JS, Kim KM, Oh SH, Kim HJ, Cho JM, Yoo HW, et al. Liver transplantation for metabolic liver disease: experience at a living donor dominant liver transplantation center. Pediatr Gastroenterol Hepatol Nutr 2015;18:48-54. https://doi.org/10.5223/pghn.2015.18.1.48
  6. Mazariegos G, Shneider B, Burton B, et al. Liver transplantation for pediatric metabolic disease. Mol Genet Metab 2014;111:418-27. https://doi.org/10.1016/j.ymgme.2014.01.006
  7. McDiarmid SV, Anand R, Lindblad AS; Principal Investigators and Institutions of the Studies of Pediatric Liver Transplantation (SPLIT) Research Group. Development of a pediatric end-stage liver disease score to predict poor outcome in children awaiting liver transplantation. Transplantation 2002;74:173-81. https://doi.org/10.1097/00007890-200207270-00006
  8. Malinchoc M, Kamath PS, Gordon FD, Peine CJ, Rank J, ter Borg PC. A model to predict poor survival in patients undergoing transjugular intrahepatic portosystemic shunts. Hepatology 2000;31:864-71. https://doi.org/10.1053/he.2000.5852
  9. 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;7:2782-7. https://doi.org/10.1111/j.1600-6143.2007.01986.x
  10. Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child 1998;78:508-12. https://doi.org/10.1136/adc.78.6.508
  11. Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet 1988;42:839-46.
  12. Porta F, Romagnoli R, Busso M, Tandoi F, Spada M. Differential intraoperative effect of liver transplant in different inborn errors of metabolism. J Pediatr Gastroenterol Nutr 2019;69:160-2. https://doi.org/10.1097/mpg.0000000000002354