Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

Baumgarter, 1995, Long-term follow-up of 77 patients with isolated methylmalonic acidaemia, J Inherit Metab Dis, 18, 138, 10.1007/BF00711749 Fenton, 2001, Disorders of propionate and methylmalonate metabolism, 1423 Hörster, 2007, Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB), Pediatr Res, 62, 225, 10.1203/PDR.0b013e3180a0325f Manoli I, Venditti CP. (Updated Sept 28, 2010). Methylmalonic acidemia. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). University of Washington, Seattle. 1997-2011. http://www.genetests.org. Accessed January 16, 2014. Nicolaides, 1998, Neurological outcome of methylmalonic acidaemia, Arch Dis Child, 78, 508, 10.1136/adc.78.6.508 van der Meer, 1994, Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia, J Pediatr, 125, 903, 10.1016/S0022-3476(05)82005-0 Hörster, 2004, Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges, Pediatr Nephrol, 19, 1071, 10.1007/s00467-004-1572-3 Molteni, 1991, Progressive renal insufficiency in methylmalonic acidemia, Pediatr Nephrol, 5, 323, 10.1007/BF00867492 Chakrapani, 2002, Metabolic stroke in methylmalonic acidemia five years after liver transplantation, J Pediatr, 140, 261, 10.1067/mpd.2002.121698 Chen, 2010, Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation, Pediatr Transplant, 14, 337, 10.1111/j.1399-3046.2009.01227.x Goyens, 1997, Liver transplantation for methylmalonyl-CoA mutase deficiency, J Inher Metab Dis, 20, 38 Ho, 2000, Anaesthesia for liver transplantation in a patient with methylmalonic acidaemia, Paediatr Anaesth, 10, 215, 10.1046/j.1460-9592.2000.00451.x Hsui, 2003, Living-related liver transplantation for methylmalonic acidemia: report of one case, Acta Paediatr Taiwan, 44, 171 Huang, 2005, Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism, J Formos Med Assoc, 104, 623 Kamei, 2011, Preoperative dialysis for liver transplantation in methylmalonic acidemia, Ther Apher Dial, 15, 488, 10.1111/j.1744-9987.2011.00974.x Kaplan, 1997, Transplantation for maple syrup urine disease (MSUD) and methylmalonic acidopathy (MMA), J Inher Metab Dis, 20, 37 Kaplan, 2006, Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency, Mol Genet Metab, 88, 322, 10.1016/j.ymgme.2006.04.003 Kasahara, 2006, Current role of liver transplantation for methylmalonic acidemia: a review of the literature, Pediatr Transplant, 10, 943, 10.1111/j.1399-3046.2006.00585.x Kayler, 2002, Long-term survival after liver transplantation in children with metabolic disorders, Pediatr Transplant, 6, 295, 10.1034/j.1399-3046.2002.02009.x Manzoni, 2006, Anaesthesia for liver transplantation in two infants with an organic acidaemia, Pediatr Transplant, 10, 623, 10.1111/j.1399-3046.2006.00536.x Morioka, 2005, Living donor liver transplantation for pediatric patients with inheritable metabolic disorders, Am J Transplant, 5, 2754, 10.1111/j.1600-6143.2005.01084.x Morioka, 2007, Efficacy of living donor liver transplantation for patients with methylmalonic acidemia, Am J Transplant, 7, 2782, 10.1111/j.1600-6143.2007.01986.x Nyhan, 2002, Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver, Eur J Pediatr, 161, 377, 10.1007/s00431-002-0970-4 Shinkai, 2003, Effect of living donor liver transplantation for methylmalonic acidemia, Kanagawa Igaku Zasshi, 30, 94 Van’t Hoff, 1999, Liver transplantation for methylmalonic acidemia, Eur J Pediatr, 158, S70, 10.1007/PL00014326 McGuire, 2008, Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature, Mol Genet Metab, 93, 22, 10.1016/j.ymgme.2007.08.119 Nagarajan, 2005, Management of methylmalonic acidemia by combined liver-kidney transplantation, J Inherit Metab Dis, 28, 517, 10.1007/s10545-005-0517-8 Stevenson, 2010, Long-term outcome following pediatric liver transplantation for metabolic disorders, Pediatr Transplant, 14, 268, 10.1111/j.1399-3046.2009.01228.x van 't Hoff, 1998, Combined liver-kidney transplantation in methylmalonic acidemia, J Pediatr, 132, 1043, 10.1016/S0022-3476(98)70407-X Brassier, 2013, Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease, Mol Genet Metab, 110, 106, 10.1016/j.ymgme.2013.05.001 Cosson, 2008, Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria, Mol Genet Metab, 95, 107, 10.1016/j.ymgme.2008.06.007 Lubrano, 2001, Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure, Pediatr Nephrol, 16, 848, 10.1007/s004670100688 Lubrano, 2007, 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, 1209, 10.1007/s00467-007-0460-z Bayley, 2006 Accardo, 2005 Schwartz, 1976, A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine, Pediatrics, 58, 259, 10.1542/peds.58.2.259 Schwartz, 1984, A simple estimate of glomerular filtration rate in full-term infants during the first year of life, J Pediatr, 104, 849, 10.1016/S0022-3476(84)80479-5 Florkowski, 2011, Methods of estimating GFR—different equations including CKD-EPI, Clin Biochem Rev, 32, 75 Levey, 2009, A new equation to estimate glomerular filtration rate, Ann Intern Med, 150, 604, 10.7326/0003-4819-150-9-200905050-00006 Lubrano, 2013, Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report, Am J Transplant, 13, 1918, 10.1111/ajt.12282 Perito, 2014, Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012, Liver Transpl, 20, 89, 10.1002/lt.23765 Kim, 2013, Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience, Pediatr Transplant, 17, 158, 10.1111/petr.12041 O'Shea, 2012, Neurocognitive phenotype of isolated methylmalonic acidemia, J Pediatrics, 129, e1541, 10.1542/peds.2011-1715 Kaczmarek, 2007, Late-onset tacrolimus-associated cerebellar atrophia in a heart transplant recipient, J Heart Lung Transplant, 26, 89, 10.1016/j.healun.2006.10.008 Tezcan, 1998, Severe cerebellar swelling and thrombotic thrombocytopenic purpura associated with FK506, Bone Marrow Transplant, 21, 105, 10.1038/sj.bmt.1701047 Walter, 1989, Chronic renal failure in methylmalonic acidaemia, Eur J Pediatr, 148, 344, 10.1007/BF00444131 Manoli, 2013, Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia, Proc Natl Acad Sci U S A, 110, 13552, 10.1073/pnas.1302764110 Kruszka, 2013, Renal growth in isolated methylmalonic acidemia, Genet Med, 15, 990, 10.1038/gim.2013.42 Chandler, 2007, Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle, BMC Med Genet, 8, 64, 10.1186/1471-2350-8-64 Fowler, 2008, Causes of and diagnostic approach to methylmalonic acidurias, J Inherit Metab Dis, 31, 350, 10.1007/s10545-008-0839-4 Levey, 2012, Chronic kidney disease, Lancet, 379, 165, 10.1016/S0140-6736(11)60178-5