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

The Journal of Pediatrics
Anna-Kaisa NiemiG M Enns

Abstract

To assess biochemical, surgical, and long-term outcomes of liver (LT) or liver-kidney transplantation (LKT) for severe, early-onset methylmalonic acidemia/acid (MMA). A retrospective chart review (December 1997 to May 2012) of patients with MMA who underwent LT or LKT at Lucile Packard Children's Hospital at Stanford. Fourteen patients underwent LT (n = 6) or LKT (n = 8) at mean age 8.2 years (range 0.8-20.7). Eleven (79%) were diagnosed during the neonatal period, including 6 by newborn screening. All underwent deceased donor transplantation; 12 (86%) received a whole liver graft. Postoperative survival was 100%. At a mean follow-up of 3.25 ± 4.2 years, patient survival was 100%, liver allograft survival 93%, and kidney allograft survival 100%. One patient underwent liver re-transplantation because of hepatic artery thrombosis. After transplantation, there were no episodes of hyperammonemia, acidosis, or metabolic decompensation. The mean serum MMA at the time of transplantation was 1648 ± 1492 μmol/L (normal <0.3, range 99-4420). By 3 days, post-transplantation levels fell on average by 87% (mean 210 ± 154 μmol/L), and at 4 months, they were 83% below pre-transplantation levels (mean 305 ± 108 μmol/L). Developmental delay was...Continue Reading

References

May 1, 1991·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·K H MolteniA L Friedman
Jan 1, 1989·European Journal of Pediatrics·J H WalterM J Dillon
Jan 1, 1995·Journal of Inherited Metabolic Disease·E R Baumgarter, C Viardot
Mar 5, 1998·Bone Marrow Transplantation·H TezcanJ Schriber
Jun 17, 1998·The Journal of Pediatrics·W G van 't HoffJ V Leonard
Aug 26, 1998·Archives of Disease in Childhood·P NicolaidesR Surtees
Dec 22, 1999·European Journal of Pediatrics·W van't HoffJ V Leonard
Oct 31, 2001·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·R LubranoM A Castello
Feb 28, 2002·The Journal of Pediatrics·Anupam ChakrapaniJ V Leonard
Jul 12, 2002·European Journal of Pediatrics·William L NyhanRichard Koch
Sep 18, 2002·Pediatric Transplantation·Liise K KaylerJohn C Magee
Aug 5, 2004·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Friederike Hörster, Georg F Hoffmann
May 20, 2005·Journal of Inherited Metabolic Disease·S NagarajanM M Sarwal
Oct 11, 2005·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·Daisuke MoriokaKoichi Tanaka
Jul 22, 2006·Pediatric Transplantation·Diego ManzoniValter Sonzogni
Nov 14, 2006·Pediatric Transplantation·Mureo KasaharaMorihiro Saeki
Jan 20, 2007·The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation·I KaczmarekB Reichart
Apr 3, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Riccardo LubranoPasquale Berloco
Jun 29, 2007·Pediatric Research·Friederike HörsterE Regula Baumgartner
Oct 3, 2007·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·D MoriokaA Nakagawa
Oct 17, 2007·BMC Medical Genetics·Randy J ChandlerCharles P Venditti
Jun 20, 2008·Journal of Inherited Metabolic Disease·B FowlerM R Baumgartner
May 6, 2009·Annals of Internal Medicine·Andrew S LeveyUNKNOWN CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration)
Aug 13, 2009·Pediatric Transplantation·Terrell StevensonGregory M Enns
Aug 16, 2011·Lancet·Andrew S Levey, Josef Coresh
Oct 7, 2011·Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy·Koichi KameiMureo Kasahara
May 23, 2012·Pediatrics·Colin J O'SheaJoseph Snow
Jan 26, 2013·Pediatric Transplantation·Irene K KimCarlos O Esquivel
May 4, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Paul S KruszkaCharles P Venditti
May 29, 2013·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·R LubranoM Elli
Jun 12, 2013·Molecular Genetics and Metabolism·A BrassierP Niaudet
Jul 31, 2013·Proceedings of the National Academy of Sciences of the United States of America·Irini ManoliCharles P Venditti
Oct 19, 2013·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Emily R PeritoPhilip Rosenthal

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Citations

Jan 16, 2016·Pediatric Transplantation·Christer Holmberg
Sep 13, 2015·The Journal of Pediatrics·Marco SpadaFrancesco Porta
Apr 18, 2015·The Journal of Pediatrics·Jennifer L SloanCharles P Venditti
Aug 7, 2018·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Kristen CritelliJames E Squires
Dec 17, 2015·Journal of Genetic Counseling·Kimberly SplinterJonathan A Bernstein
Apr 12, 2019·Pediatric Transplantation·Damien NooneChitra Prasad
Jun 3, 2016·Critical Care Nursing Quarterly·Jacob L Bilhartz, Victoria L Shieck
Jul 16, 2019·Human Gene Therapy·Randy J Chandler, Charles P Venditti
Feb 24, 2019·Gut·Pedro BerraondoAntonio Fontanellas
Jan 13, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ryszard Grenda, Piotr Kaliciński
Mar 28, 2019·Nature Reviews. Neurology·Moacir Wajner
May 24, 2019·Journal of Inherited Metabolic Disease·Hanneke A HaijesNanda M Verhoeven-Duif
Jul 28, 2019·Human Gene Therapy·Nerea ZabaletaGloria Gonzalez-Aseguinolaza
May 16, 2020·Journal of Inherited Metabolic Disease·Bianca DimitrovStefan Kölker
Aug 14, 2015·Current Opinion in Organ Transplantation·Justine BacchettaAnne-Laure Leclerc
Nov 16, 2018·International Journal of Molecular Sciences·Michele CostanzoMargherita Ruoppolo
Apr 10, 2019·Journal of Pediatric Gastroenterology and Nutrition·Francesco PortaMarco Spada
Sep 17, 2019·Journal of Inherited Metabolic Disease·Anaïs BrassierPascale de Lonlay
Dec 22, 2017·Journal of Cellular and Molecular Medicine·Tal Erlich-HadadHaya Lorberboum-Galski
Dec 7, 2018·JCI Insight·Irini ManoliCharles P Venditti
Dec 18, 2019·Orphanet Journal of Rare Diseases·Yi-Zhou JiangLi-Ying Sun
Jun 11, 2019·Human Gene Therapy·Paolo G V Martini, Lin T Guey
Apr 6, 2019·Frontiers in Pediatrics·Yi-Zhou Jiang, Li-Ying Sun
Oct 1, 2020·Journal of Inherited Metabolic Disease·Femke MolemaUNKNOWN additional individual contributors of MetabERN
Nov 24, 2019·Molecular Genetics and Metabolism·Nishitha R PillaiLindsay C Burrage
Nov 3, 2020·World Journal of Transplantation·Randula RanawakaManoji Gamage
Nov 18, 2020·World Journal of Hepatology·Mladen KnotekAnna Mrzljak
Feb 18, 2021·Journal of Inherited Metabolic Disease·Patrick FornyMatthias R Baumgartner
Apr 7, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Irini ManoliCharles P Venditti
Sep 26, 2020·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Randy J ChandlerCharles P Venditti
Jun 25, 2021·American Journal of Medical Genetics. Part a·Hilary J Vernon, Irini Manoli

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