Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?

The Journal of Pediatrics - Tập 166 Số 6 - Trang 1346-1350 - 2015
Jennifer L. Sloan1, Irini Manoli1, Charles P. Venditti2
1Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
2Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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Tài liệu tham khảo

Fenton, 2001, Inherited disorders of folate and cobalamin transport and metabolism in the metabolic and molecular bases of inherited disease, 3897

Manoli, 1993, Methylmalonic acidemia

American College of Medical Genetics Newborn Screening Expert Group, 2006, Newborn screening: toward a uniform screening panel and system. Executive summary, Pediatrics, 117, S296, 10.1542/peds.2005-2633I

Horster, 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

Matsui, 1983, The natural history of the inherited methylmalonic acidemias, N Engl J Med, 308, 857, 10.1056/NEJM198304143081501

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

Nicolaides, 1998, Neurological outcome of methylmalonic acidaemia, Arch Dis Child, 78, 508, 10.1136/adc.78.6.508

de Baulny, 2005, Methylmalonic and propionic acidaemias: management and outcome, J Inherit Metab Dis, 28, 415, 10.1007/s10545-005-7056-1

Cosson, 2009, Long-term outcome in methylmalonic aciduria: a series of 30 French patients, Mol Genet Metab, 97, 172, 10.1016/j.ymgme.2009.03.006

van't Hoff, 1998, Combined liver-kidney transplantation in methylmalonic acidemia, J Pediatr, 132, 1043, 10.1016/S0022-3476(98)70407-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

Nagarajan, 2005, Management of methylmalonic acidaemia by combined liver-kidney transplantation, J Inherit Metab Dis, 28, 517, 10.1007/s10545-005-0517-8

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

van't Hoff, 1999, Liver transplantation for methylmalonic acidaemia, Eur J Pediatr, 158, S70, 10.1007/PL00014326

Niemi, 2015, Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation, J Pediatr, 166, 1455, 10.1016/j.jpeds.2015.01.051

Chandler, 2009, Mitochondrial dysfunction in mut methylmalonic acidemia, FASEB J, 23, 1252, 10.1096/fj.08-121848

Zsengeller, 2014, Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney, Pediatr Nephrol, 29, 2139, 10.1007/s00467-014-2847-y

Wilnai, 2014, Abnormal hepatocellular mitochondria in methylmalonic acidemia, Ultrastruct Pathol, 38, 309, 10.3109/01913123.2014.921657

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

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

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

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

Nyhan, 2002, Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver, Eur J Pediatr, 161, 377, 10.1007/s00431-002-0970-4

Stevenson, 2010, Long-term outcome following pediatric liver transplantation for metabolic disorders, Pediatr Transplant, 14, 268, 10.1111/j.1399-3046.2009.01228.x

Vernon, 2014, A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia, J Inherit Metab Dis, 37, 899, 10.1007/s10545-014-9730-7

Dionisi-Vici, 2006, “Classical” organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry, J Inherit Metab Dis, 29, 383, 10.1007/s10545-006-0278-z

Chakrapani, 2002, Metabolic stroke in methylmalonic acidemia five years after liver transplantation, J Pediatr, 140, 261, 10.1067/mpd.2002.121698

Coman, 2006, Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia, Pediatr Nephrol, 21, 270, 10.1007/s00467-005-2071-x

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

Clothier, 2011, Renal transplantation in a boy with methylmalonic acidaemia, J Inherit Metab Dis, 34, 695, 10.1007/s10545-011-9303-y

Lubrano, 2001, Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure, Pediatr Nephrol, 16, 848, 10.1007/s004670100688

Van Calcar, 1998, Renal transplantation in a patient with methylmalonic acidaemia, J Inherit Metab Dis, 21, 729, 10.1023/A:1005493015489

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

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

Lubrano, 2013, Methylmalonic acidemia and kidney transplantation, Pediatr Nephrol, 28, 2067, 10.1007/s00467-013-2536-2

Worgan, 2006, Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype, Hum Mutat, 27, 31, 10.1002/humu.20258