메뉴 건너뛰기




Volumn 166, Issue 6, 2015, Pages 1455-1461.e1

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation

Author keywords

[No Author keywords available]

Indexed keywords

PREDNISONE; TACROLIMUS;

EID: 84930182323     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2015.01.051     Document Type: Article
Times cited : (95)

References (51)
  • 1
    • 0029035831 scopus 로고
    • Long-term follow-up of 77 patients with isolated methylmalonic acidaemia
    • E.R. Baumgarter, and C. Viardot Long-term follow-up of 77 patients with isolated methylmalonic acidaemia J Inherit Metab Dis 18 1995 138 142
    • (1995) J Inherit Metab Dis , vol.18 , pp. 138-142
    • Baumgarter, E.R.1    Viardot, C.2
  • 2
    • 0002911516 scopus 로고    scopus 로고
    • Disorders of propionate and methylmalonate metabolism
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, 8th ed. McGraw-Hill New York
    • W.A. Fenton, and L.E. Rosenberg Disorders of propionate and methylmalonate metabolism C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K.W. Kinzler, The metabolic and molecular basics of inherited diseases 8th ed. 2001 McGraw-Hill New York 1423 1449
    • (2001) The Metabolic and Molecular Basics of Inherited Diseases , pp. 1423-1449
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 3
    • 34547617321 scopus 로고    scopus 로고
    • Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)
    • F. Hörster, M.R. Baumgartner, C. Viardot, T. Suormala, P. Burgard, and B. Fowler Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB) Pediatr Res 62 2007 225 230
    • (2007) Pediatr Res , vol.62 , pp. 225-230
    • Hörster, F.1    Baumgartner, M.R.2    Viardot, C.3    Suormala, T.4    Burgard, P.5    Fowler, B.6
  • 5
    • 0031777789 scopus 로고    scopus 로고
    • Neurological outcome of methylmalonic acidaemia
    • P. Nicolaides, J. Leonard, and R. Surtees Neurological outcome of methylmalonic acidaemia Arch Dis Child 78 1998 508 512
    • (1998) Arch Dis Child , vol.78 , pp. 508-512
    • Nicolaides, P.1    Leonard, J.2    Surtees, R.3
  • 6
    • 0028063308 scopus 로고
    • Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
    • S.B. van der Meer, F. Poggi, M. Spada, J.P. Bonnefont, H. Ogier, and P. Hubert Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia J Pediatr 125 1994 903 908
    • (1994) J Pediatr , vol.125 , pp. 903-908
    • Van Der Meer, S.B.1    Poggi, F.2    Spada, M.3    Bonnefont, J.P.4    Ogier, H.5    Hubert, P.6
  • 7
    • 4844223887 scopus 로고    scopus 로고
    • Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges
    • F. Hörster, and G.H. Hoffman Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges Pediatr Nephrol 19 2004 1071 1074
    • (2004) Pediatr Nephrol , vol.19 , pp. 1071-1074
    • Hörster, F.1    Hoffman, G.H.2
  • 9
    • 0036185881 scopus 로고    scopus 로고
    • Metabolic stroke in methylmalonic acidemia five years after liver transplantation
    • A. Chakrapani, P. Sivakumar, P.J. McKiernan, and J.V. Leonard Metabolic stroke in methylmalonic acidemia five years after liver transplantation J Pediatr 140 2002 261 263
    • (2002) J Pediatr , vol.140 , pp. 261-263
    • Chakrapani, A.1    Sivakumar, P.2    McKiernan, P.J.3    Leonard, J.V.4
  • 10
    • 77950680261 scopus 로고    scopus 로고
    • Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
    • P.W. Chen, W.L. Hwu, M.C. Ho, N.C. Lee, Y.H. Chien, and Y.H. Ni Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation Pediatr Transplant 14 2010 337 341
    • (2010) Pediatr Transplant , vol.14 , pp. 337-341
    • Chen, P.W.1    Hwu, W.L.2    Ho, M.C.3    Lee, N.C.4    Chien, Y.H.5    Ni, Y.H.6
  • 12
    • 0034060729 scopus 로고    scopus 로고
    • Anaesthesia for liver transplantation in a patient with methylmalonic acidaemia
    • D. Ho, V. Harrison, and N. Street Anaesthesia for liver transplantation in a patient with methylmalonic acidaemia Paediatr Anaesth 10 2000 215 218
    • (2000) Paediatr Anaesth , vol.10 , pp. 215-218
    • Ho, D.1    Harrison, V.2    Street, N.3
  • 13
    • 0041321158 scopus 로고    scopus 로고
    • Living-related liver transplantation for methylmalonic acidemia: Report of one case
    • J.Y. Hsui, Y.H. Chien, S.Y. Chu, F.L. Lu, H.L. Chen, and M.J. Ho Living-related liver transplantation for methylmalonic acidemia: report of one case Acta Paediatr Taiwan 44 2003 171 173
    • (2003) Acta Paediatr Taiwan , vol.44 , pp. 171-173
    • Hsui, J.Y.1    Chien, Y.H.2    Chu, S.Y.3    Lu, F.L.4    Chen, H.L.5    Ho, M.J.6
  • 14
    • 33644648049 scopus 로고    scopus 로고
    • Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
    • H.P. Huang, Y.H. Chien, L.M. Huang, Y.H. Ni, M.H. Chang, and M.C. Ho Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism J Formos Med Assoc 104 2005 623 629
    • (2005) J Formos Med Assoc , vol.104 , pp. 623-629
    • Huang, H.P.1    Chien, Y.H.2    Huang, L.M.3    Ni, Y.H.4    Chang, M.H.5    Ho, M.C.6
  • 16
    • 0001822605 scopus 로고    scopus 로고
    • Transplantation for maple syrup urine disease (MSUD) and methylmalonic acidopathy (MMA)
    • P. Kaplan, A.M. Mazur, R. Smith, K. Olthoff, E. Maller, and M. Palmieri Transplantation for maple syrup urine disease (MSUD) and methylmalonic acidopathy (MMA) J Inher Metab Dis 20 Suppl 1 1997 37
    • (1997) J Inher Metab Dis , vol.20 , pp. 37
    • Kaplan, P.1    Mazur, A.M.2    Smith, R.3    Olthoff, K.4    Maller, E.5    Palmieri, M.6
  • 17
    • 33746272227 scopus 로고    scopus 로고
    • Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
    • P. Kaplan, C. Ficicioglu, A.T. Mazur, M.J. Palmieri, and G.T. Berry Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency Mol Genet Metab 88 2006 322 326
    • (2006) Mol Genet Metab , vol.88 , pp. 322-326
    • Kaplan, P.1    Ficicioglu, C.2    Mazur, A.T.3    Palmieri, M.J.4    Berry, G.T.5
  • 18
    • 33750600921 scopus 로고    scopus 로고
    • Current role of liver transplantation for methylmalonic acidemia: A review of the literature
    • M. Kasahara, R. Horikawa, M. Tagawa, S. Uemoto, S. Yokoyama, and Y. Shibata Current role of liver transplantation for methylmalonic acidemia: a review of the literature Pediatr Transplant 10 2006 943 947
    • (2006) Pediatr Transplant , vol.10 , pp. 943-947
    • Kasahara, M.1    Horikawa, R.2    Tagawa, M.3    Uemoto, S.4    Yokoyama, S.5    Shibata, Y.6
  • 20
    • 33745713204 scopus 로고    scopus 로고
    • Anaesthesia for liver transplantation in two infants with an organic acidaemia
    • D. Manzoni, A. Spotti, B. Carrara, P. Gritti, and V. Sonzogni Anaesthesia for liver transplantation in two infants with an organic acidaemia Pediatr Transplant 10 2006 623 628
    • (2006) Pediatr Transplant , vol.10 , pp. 623-628
    • Manzoni, D.1    Spotti, A.2    Carrara, B.3    Gritti, P.4    Sonzogni, V.5
  • 21
    • 33644803431 scopus 로고    scopus 로고
    • Living donor liver transplantation for pediatric patients with inheritable metabolic disorders
    • D. Morioka, M. Kasahara, Y. Takada, J.P. Corrales, A. Yoshizawa, and S. Sakamoto Living donor liver transplantation for pediatric patients with inheritable metabolic disorders Am J Transplant 5 2005 2754 2763
    • (2005) Am J Transplant , vol.5 , pp. 2754-2763
    • Morioka, D.1    Kasahara, M.2    Takada, Y.3    Corrales, J.P.4    Yoshizawa, A.5    Sakamoto, S.6
  • 22
  • 23
    • 0036305659 scopus 로고    scopus 로고
    • Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
    • W.L. Nyhan, J.J. Gargus, K. Boyle, R. Selby, and R. Koch Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver Eur J Pediatr 161 2002 377 379
    • (2002) Eur J Pediatr , vol.161 , pp. 377-379
    • Nyhan, W.L.1    Gargus, J.J.2    Boyle, K.3    Selby, R.4    Koch, R.5
  • 24
    • 33750594598 scopus 로고    scopus 로고
    • Effect of living donor liver transplantation for methylmalonic acidemia
    • M. Shinkai, Y. Ohama, and A. Hinoki Effect of living donor liver transplantation for methylmalonic acidemia Kanagawa Igaku Zasshi 30 2003 94
    • (2003) Kanagawa Igaku Zasshi , vol.30 , pp. 94
    • Shinkai, M.1    Ohama, Y.2    Hinoki, A.3
  • 26
    • 36849006432 scopus 로고    scopus 로고
    • Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature
    • P.J. McGuire, E. Lim-Melia, G.A. Diaz, K. Raymond, A. Larkin, and M.P. Wasserstein Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature Mol Genet Metab 93 2008 22 29
    • (2008) Mol Genet Metab , vol.93 , pp. 22-29
    • McGuire, P.J.1    Lim-Melia, E.2    Diaz, G.A.3    Raymond, K.4    Larkin, A.5    Wasserstein, M.P.6
  • 27
  • 30
    • 84896060767 scopus 로고    scopus 로고
    • Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
    • A. Brassier, O. Boyer, V. Valayannopoulos, C. Ottolenghi, P. Krug, and M.A. Cosson Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease Mol Genet Metab 110 2013 106 110
    • (2013) Mol Genet Metab , vol.110 , pp. 106-110
    • Brassier, A.1    Boyer, O.2    Valayannopoulos, V.3    Ottolenghi, C.4    Krug, P.5    Cosson, M.A.6
  • 31
    • 51649100173 scopus 로고    scopus 로고
    • Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
    • M.A. Cosson, G. Touati, F. Lacaille, V. Valayannnopoulos, C. Guyot, and G. Guest Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria Mol Genet Metab 95 2008 107 109
    • (2008) Mol Genet Metab , vol.95 , pp. 107-109
    • Cosson, M.A.1    Touati, G.2    Lacaille, F.3    Valayannnopoulos, V.4    Guyot, C.5    Guest, G.6
  • 32
  • 33
    • 34548461734 scopus 로고    scopus 로고
    • Renal transplant in methylmalonic acidemia: Could it be the best option? Report on a case at 10 years and review of the literature
    • R. Lubrano, M. Elli, M. Rossi, E. Travasso, C. Raggi, and P. Barsotti Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature Pediatr Nephrol 22 2007 1209 1214
    • (2007) Pediatr Nephrol , vol.22 , pp. 1209-1214
    • Lubrano, R.1    Elli, M.2    Rossi, M.3    Travasso, E.4    Raggi, C.5    Barsotti, P.6
  • 36
    • 0017195506 scopus 로고
    • A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine
    • G.J. Schwartz, G.B. Haycock, C.M. Edelmann Jr., and A. Spitzer A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine Pediatrics 58 1976 259 263
    • (1976) Pediatrics , vol.58 , pp. 259-263
    • Schwartz, G.J.1    Haycock, G.B.2    Edelmann, Jr.C.M.3    Spitzer, A.4
  • 37
    • 0021153681 scopus 로고
    • A simple estimate of glomerular filtration rate in full-term infants during the first year of life
    • G.J. Schwartz, L.G. Feld, and D.J. Langford A simple estimate of glomerular filtration rate in full-term infants during the first year of life J Pediatr 104 1984 849 854
    • (1984) J Pediatr , vol.104 , pp. 849-854
    • Schwartz, G.J.1    Feld, L.G.2    Langford, D.J.3
  • 38
    • 82055196686 scopus 로고    scopus 로고
    • Methods of estimating GFR - Different equations including CKD-EPI
    • C.M. Florkowski, and J.S.C. Chew-Harris Methods of estimating GFR - different equations including CKD-EPI Clin Biochem Rev 32 2011 75 79
    • (2011) Clin Biochem Rev , vol.32 , pp. 75-79
    • Florkowski, C.M.1    Chew-Harris, J.S.C.2
  • 40
    • 84879551121 scopus 로고    scopus 로고
    • Pregnancy in a methylmalonic acidemia patient with kidney transplantation: A case report
    • R. Lubrano, E. Bellelli, I. Gentile, S. Paoli, C. Carducci, and C. Carducci Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report Am J Transplant 13 2013 1918 1922
    • (2013) Am J Transplant , vol.13 , pp. 1918-1922
    • Lubrano, R.1    Bellelli, E.2    Gentile, I.3    Paoli, S.4    Carducci, C.5    Carducci, C.6
  • 41
    • 84896517826 scopus 로고    scopus 로고
    • Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012
    • E.R. Perito, S. Rhee, J.P. Roberts, and P. Rosenthal Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012 Liver Transpl 20 2014 89 99
    • (2014) Liver Transpl , vol.20 , pp. 89-99
    • Perito, E.R.1    Rhee, S.2    Roberts, J.P.3    Rosenthal, P.4
  • 42
    • 84874487768 scopus 로고    scopus 로고
    • Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience
    • I.K. Kim, A.K. Niemi, C. Krueger, C.A. Bonham, W. Concepcion, and T.M. Cowan Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience Pediatr Transplant 17 2013 158 167
    • (2013) Pediatr Transplant , vol.17 , pp. 158-167
    • Kim, I.K.1    Niemi, A.K.2    Krueger, C.3    Bonham, C.A.4    Concepcion, W.5    Cowan, T.M.6
  • 45
    • 0031962541 scopus 로고    scopus 로고
    • Severe cerebellar swelling and thrombotic thrombocytopenic purpura associated with FK506
    • H. Tezcan, W. Zimmer, R. Fenstermaker, G.P. Herzig, and J. Schriber Severe cerebellar swelling and thrombotic thrombocytopenic purpura associated with FK506 Bone Marrow Transplant 21 1998 105 109
    • (1998) Bone Marrow Transplant , vol.21 , pp. 105-109
    • Tezcan, H.1    Zimmer, W.2    Fenstermaker, R.3    Herzig, G.P.4    Schriber, J.5
  • 47
    • 84882415756 scopus 로고    scopus 로고
    • Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
    • I. Manoli, J.R. Sysol, L. Li, P. Houillier, C. Garone, and C. Wang Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia Proc Natl Acad Sci U S A 110 2013 13552 13557
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 13552-13557
    • Manoli, I.1    Sysol, J.R.2    Li, L.3    Houillier, P.4    Garone, C.5    Wang, C.6
  • 49
    • 37449007268 scopus 로고    scopus 로고
    • Metabolic phenotype of methylmalonic acidemia in mice and humans: The role of skeletal muscle
    • R.J. Chandler, J. Sloan, H. Fu, M. Tsai, S. Stabler, and R. Allen Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle BMC Med Genet 8 2007 64
    • (2007) BMC Med Genet , vol.8 , pp. 64
    • Chandler, R.J.1    Sloan, J.2    Fu, H.3    Tsai, M.4    Stabler, S.5    Allen, R.6
  • 50
    • 45849132005 scopus 로고    scopus 로고
    • Causes of and diagnostic approach to methylmalonic acidurias
    • B. Fowler, J.V. Leonard, and M.R. Baumgartner Causes of and diagnostic approach to methylmalonic acidurias J Inherit Metab Dis 31 2008 350 360
    • (2008) J Inherit Metab Dis , vol.31 , pp. 350-360
    • Fowler, B.1    Leonard, J.V.2    Baumgartner, M.R.3
  • 51
    • 84855854046 scopus 로고    scopus 로고
    • Chronic kidney disease
    • A.S. Levey, and J. Coresh Chronic kidney disease Lancet 379 2012 165 180
    • (2012) Lancet , vol.379 , pp. 165-180
    • Levey, A.S.1    Coresh, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.