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Abstract

  • Organic acidemias (OA) are defects in the degradation of leucine, isoleucine, and valine.

  • OA can present either as a severe neonatal-onset form (poor feeding, vomiting, lethargy, tachypnea, progressing to acidosis, respiratory distress, coma, death) or late-onset form (usually recurrent ketoacidosis or lethargy with catabolic stress).

  • Nutrition treatment involves use of propiogenic amino acid-free medical foods and restriction of natural protein in PROP and MMA and protein restriction with or without leucine-free medical foods in IVA.

  • Outcomes in PROP and MMA have been guarded with frequent neurological complications, renal dysfunction, cardiomyopathy, and optic atrophy but are improving with earlier identification and treatment, as well as with liver or liver-kidney transplantation; outcomes in IVA are often normal.

Keywords

Newborn Screening Methylmalonic Acid Isovaleric Acid Metabolic Decompensation Propionic Acidemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Sniderman LC, et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr. 1999;134(6):675–80.PubMedGoogle Scholar
  2. 2.
    Yorifuji T, et al. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet. 2002;111(2):161–5.PubMedGoogle Scholar
  3. 3.
    Deodato F, et al. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006;142C(2):104–12.PubMedGoogle Scholar
  4. 4.
    Rafique M. Propionic acidaemia: demographic characteristics and complications. J Pediatr Endocrinol Metab. 2013;26(5–6):497–501.PubMedGoogle Scholar
  5. 5.
    Ensenauer R, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004;75(6):1136–42.PubMedCentralPubMedGoogle Scholar
  6. 6.
    Ensenauer R, et al. Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns. Clin Chem. 2011;57(4):623–6.PubMedGoogle Scholar
  7. 7.
    Nyhan WL, B. B, Ozand PT. Propionic acidemia (Ch 2) Methylmalonic acidemia (Ch 3) Isovaleric Acidemia (Ch 7). In: Atlas of metabolic diseases. 2nd ed. London: Hodder Arnold; 2005.Google Scholar
  8. 8.
    Dionisi-Vici C, et al. ‘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. 2006;29(2–3):383–9.PubMedGoogle Scholar
  9. 9.
    Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet. 2006;142C(2):95–103.PubMedCentralPubMedGoogle Scholar
  10. 10.
    Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. Semin Neonatol. 2002;7(1):65–74.PubMedGoogle Scholar
  11. 11.
    Tanpaiboon P. Methylmalonic acidemia (MMA). Mol Genet Metab. 2005;85(1):2–6.PubMedGoogle Scholar
  12. 12.
    Soyucen E, Demirci E, Aydin A. Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant. Clin Ther. 2010;32(4):710–3.PubMedGoogle Scholar
  13. 13.
    Ogier de Baulny H, Dionisi-Vici C, Wendel U. Branched-chain organic acidurias/acidemias. In: van den Berghe G, van den Berghe G, Saudubray J-M, Walter JH, editors. Inborn metabolic diseases. 5th ed. Heidelberg: Springer; 2012.Google Scholar
  14. 14.
    Dionisi-Vici C, Ogier de Baulny H. Emergency treatment. In: van den Berghe G, Saudubray J-M, Walter JH, editors. Inborn metabolic diseases. Diagnosis and treatment. Berlin: Springer; 2012. p. 104–11.Google Scholar
  15. 15.
    Erdem E, et al. Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis. J Pediatr Endocrinol Metab. 2010;23(5):503–5.PubMedGoogle Scholar
  16. 16.
    Dweikat IM, et al. Propionic acidemia mimicking diabetic ketoacidosis. Brain Dev. 2011;33(5):428–31.PubMedGoogle Scholar
  17. 17.
    Joshi R, Phatarpekar A. Propionic acidemia presenting as diabetic ketoacidosis. Indian Pediatr. 2011;48(2):164–5.PubMedGoogle Scholar
  18. 18.
    Guven A, et al. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatr Diabetes. 2012;13(6):e22–5.PubMedGoogle Scholar
  19. 19.
    de Baulny HO, et al. Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis. 2005;28(3):415–23.PubMedGoogle Scholar
  20. 20.
    Cosson MA, et al. Long-term outcome in methylmalonic aciduria: a series of 30 French patients. Mol Genet Metab. 2009;97(3):172–8.PubMedGoogle Scholar
  21. 21.
    Schreiber J, et al. Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012;105(1):10–5.PubMedGoogle Scholar
  22. 22.
    Chapman KA, et al. Acute management of propionic acidemia. Mol Genet Metab. 2012;105(1):16–25.PubMedCentralPubMedGoogle Scholar
  23. 23.
    Ianchulev T, et al. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003;110(9):1850–4.PubMedGoogle Scholar
  24. 24.
    Martín-Hernández E, et al. Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors. J Inherit Metab Dis. 2009;32(4):523–33.PubMedGoogle Scholar
  25. 25.
    Williams ZR, et al. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009;147(5):929–33.PubMedGoogle Scholar
  26. 26.
    Kölker S, et al. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem. 2003;278(48):47388–93.PubMedGoogle Scholar
  27. 27.
    Morath MA, et al. Neurodegeneration and chronic renal failure in methylmalonic aciduria–a pathophysiological approach. J Inherit Metab Dis. 2008;31(1):35–43.PubMedGoogle Scholar
  28. 28.
    Ballhausen D, et al. Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain. Neuroscience. 2009;164(2):578–87.PubMedGoogle Scholar
  29. 29.
    de Keyzer Y, et al. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res. 2009;66(1):91–5.PubMedGoogle Scholar
  30. 30.
    Broomfield A, et al. Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis? Neuropediatrics. 2010;41(6):256–60.PubMedGoogle Scholar
  31. 31.
    Ribeiro LR, et al. Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory. Immunobiology. 2013;218(9):1175–83.PubMedGoogle Scholar
  32. 32.
    Schuck PF, et al. Acute renal failure potentiates methylmalonate-induced oxidative stress in brain and kidney of rats. Free Radic Res. 2013;47(3):233–40.PubMedGoogle Scholar
  33. 33.
    Scholl-Bürgi S, et al. Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. Neuropediatrics. 2009;40(2):76–81.PubMedGoogle Scholar
  34. 34.
    Pena L, Burton BK. Survey of health status and complications among propionic acidemia patients. Am J Med Genet A. 2012;158A(7):1641–6.PubMedGoogle Scholar
  35. 35.
    Viegas CM, et al. Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats. Free Radic Res. 2014;48(6):659–69.PubMedGoogle Scholar
  36. 36.
    Lam C, et al. 45-year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? Mol Genet Metab. 2011;103(4):338–40.PubMedGoogle Scholar
  37. 37.
    Vernon HJ, et al. Chronic kidney disease in an adult with propionic acidemia. JIMD Rep. 2014;12:5–10.PubMedCentralPubMedGoogle Scholar
  38. 38.
    Kasapkara CS, et al. Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. Ren Fail. 2014;36(3):451–2.PubMedGoogle Scholar
  39. 39.
    Rutledge SL, et al. Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol. 1993;7(1):81–2.PubMedGoogle Scholar
  40. 40.
    Hörster F, et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007;62(2):225–30.PubMedGoogle Scholar
  41. 41.
    Zsengellér ZK, et al. Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol. 2014;29:2139–46.PubMedGoogle Scholar
  42. 42.
    Massoud AF, Leonard JV. Cardiomyopathy in propionic acidaemia. Eur J Pediatr. 1993;152(5):441–5.PubMedGoogle Scholar
  43. 43.
    Lee TM, et al. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis. 2009;32 Suppl 1:S97–101.PubMedCentralPubMedGoogle Scholar
  44. 44.
    Romano S, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr. 2010;156(1):128–34.PubMedGoogle Scholar
  45. 45.
    Prada CE, et al. Cardiac disease in methylmalonic acidemia. J Pediatr. 2011;159(5):862–4.PubMedGoogle Scholar
  46. 46.
    Laemmle A, et al. Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr. 2014;173(7):971–4.PubMedGoogle Scholar
  47. 47.
    Sutton VR, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012;105(1):26–33.PubMedGoogle Scholar
  48. 48.
    Kakavand B, Schroeder VA, Di Sessa TG. Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol. 2006;27(1):160–1.PubMedGoogle Scholar
  49. 49.
    Baumgartner D, et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr. 2007;150(2):192–7, 197.e1.PubMedGoogle Scholar
  50. 50.
    Jameson E, Walter J. Cardiac arrest secondary to long QT(C) in a child with propionic acidemia. Pediatr Cardiol. 2008;29(5):969–70.PubMedGoogle Scholar
  51. 51.
    Grünert SC, et al. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013;8:6.PubMedCentralPubMedGoogle Scholar
  52. 52.
    De Raeve L, et al. Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria. J Pediatr. 1994;124(3):416–20.PubMedGoogle Scholar
  53. 53.
    Oztürk Y. Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency in inborn errors of metabolism. Pediatr Dermatol. 2008;25(3):415.PubMedGoogle Scholar
  54. 54.
    Domínguez-Cruz JJ, et al. Acrodermatitis enteropathica-like skin lesions secondary to isoleucine deficiency. Eur J Dermatol. 2011;21(1):115–6.PubMedGoogle Scholar
  55. 55.
    North KN, et al. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr. 1995;126(6):916–22.PubMedGoogle Scholar
  56. 56.
    Kahler SG, et al. Pancreatitis in patients with organic acidemias. J Pediatr. 1994;124(2):239–43.PubMedGoogle Scholar
  57. 57.
    Burlina AB, et al. Acute pancreatitis in propionic acidaemia. J Inherit Metab Dis. 1995;18(2):169–72.PubMedGoogle Scholar
  58. 58.
    Bultron G, et al. Recurrent acute pancreatitis associated with propionic acidemia. J Pediatr Gastroenterol Nutr. 2008;47(3):370–1.PubMedGoogle Scholar
  59. 59.
    Mantadakis E, et al. Acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia. Case Rep Pediatr. 2013;2013:721871.PubMedCentralPubMedGoogle Scholar
  60. 60.
    Ozand PT, Gascon GG. Organic acidurias: a review. Part 2. J Child Neurol. 1991;6(4):288–303.PubMedGoogle Scholar
  61. 61.
    Ozand PT, Gascon GG. Organic acidurias: a review. Part 1. J Child Neurol. 1991;6(3):196–219.PubMedGoogle Scholar
  62. 62.
    Ribeiro CA, et al. Isovaleric acid reduces Na+, K+-ATPase activity in synaptic membranes from cerebral cortex of young rats. Cell Mol Neurobiol. 2007;27(4):529–40.PubMedGoogle Scholar
  63. 63.
    Nizon M, et al. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis. 2013;8:148.PubMedCentralPubMedGoogle Scholar
  64. 64.
    Filipowicz HR, et al. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab. 2006;88(2):123–30.PubMedGoogle Scholar
  65. 65.
    Gebhardt B, et al. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis. 2005;28(2):241–4.PubMedGoogle Scholar
  66. 66.
    Chandler RJ, et al. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J. 2009;23(4):1252–61.PubMedCentralPubMedGoogle Scholar
  67. 67.
    Wajner M, Goodman SI. Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies. J Bioenerg Biomembr. 2011;43(1):31–8.PubMedGoogle Scholar
  68. 68.
    Melo DR, et al. Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia. J Bioenerg Biomembr. 2011;43(1):39–46.PubMedGoogle Scholar
  69. 69.
    Wilnai Y, et al. Abnormal hepatocellular mitochondria in methylmalonic acidemia. Ultrastruct Pathol. 2014;38(5):309–14.Google Scholar
  70. 70.
    Brusque AM, et al. Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid. Neurochem Int. 2002;40(7):593–601.PubMedGoogle Scholar
  71. 71.
    Richard E, et al. Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway. J Pathol. 2007;213(4):453–61.PubMedGoogle Scholar
  72. 72.
    Solano AF, et al. Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats. Free Radic Res. 2008;42(8):707–15.PubMedGoogle Scholar
  73. 73.
    Fernandes CG, et al. Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats. Cell Mol Neurobiol. 2011;31(5):775–85.PubMedGoogle Scholar
  74. 74.
    Yannicelli S. Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J Inherit Metab Dis. 2006;29(2–3):281–7.PubMedGoogle Scholar
  75. 75.
    Knerr I, V J, Gibson KM. Disorders of leucine, isoleucine and valine metabolism. In: Blau N, editor. Physician’s guide to the diagnosis, treatment and follow-up of inherited metabolic diseases. Berlin: Springer; 2014. p. 103–41.Google Scholar
  76. 76.
    Feillet F, et al. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000;136(5):659–63.PubMedGoogle Scholar
  77. 77.
    Thomas JA, et al. Apparent decreased energy requirements in children with organic acidemias: preliminary observations. J Am Diet Assoc. 2000;100(9):1074–6.PubMedGoogle Scholar
  78. 78.
    Hauser NS, et al. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr. 2011;93(1):47–56.PubMedCentralPubMedGoogle Scholar
  79. 79.
    Roe CR, et al. L-carnitine therapy in isovaleric acidemia. J Clin Invest. 1984;74(6):2290–5.PubMedCentralPubMedGoogle Scholar
  80. 80.
    de Sousa C, et al. The response to L-carnitine and glycine therapy in isovaleric acidaemia. Eur J Pediatr. 1986;144(5):451–6.PubMedGoogle Scholar
  81. 81.
    Berry GT, Yudkoff M, Segal S. Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy. J Pediatr. 1988;113(1 Pt 1):58–64.PubMedGoogle Scholar
  82. 82.
    Naglak M, et al. The treatment of isovaleric acidemia with glycine supplement. Pediatr Res. 1988;24(1):9–13.PubMedGoogle Scholar
  83. 83.
    Fries MH, et al. Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr. 1996;129(3):449–52.PubMedGoogle Scholar
  84. 84.
    Ah Mew N, et al. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics. 2010;126(1):e208–14.PubMedGoogle Scholar
  85. 85.
    Al-Hassnan ZN, et al. The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. J Inherit Metab Dis. 2003;26(1):89–91.PubMedGoogle Scholar
  86. 86.
    Siekmeyer M, et al. Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia. J Pediatr Endocrinol Metab. 2013;26(5–6):569–74.PubMedGoogle Scholar
  87. 87.
    Pinar-Sueiro S, et al. Optic neuropathy in methylmalonic acidemia: the role of neuroprotection. J Inherit Metab Dis. 2010;33 Suppl 3:S199–203.PubMedGoogle Scholar
  88. 88.
    Fragaki K, et al. Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. Mitochondrion. 2011;11(3):533–6.PubMedGoogle Scholar
  89. 89.
    Ha TS, Lee JS, Hong EJ. Delay of renal progression in methylmalonic acidemia using angiotensin II inhibition: a case report. J Nephrol. 2008;21(5):793–6.PubMedGoogle Scholar
  90. 90.
    Kelts DG, et al. Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine. Pediatr Res. 1985;19(1):86–91.PubMedGoogle Scholar
  91. 91.
    Wolff JA, et al. Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. J Neurogenet. 1985;2(1):41–9.PubMedGoogle Scholar
  92. 92.
    Marsden D, et al. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol. 1994;52(2):145–54.PubMedGoogle Scholar
  93. 93.
    Treacy E, et al. Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate. J Pediatr. 1996;129(3):445–8.PubMedGoogle Scholar
  94. 94.
    Touati G, et al. Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis. 2006;29(2–3):288–98.PubMedGoogle Scholar
  95. 95.
    Jones S, et al. N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia. J Inherit Metab Dis. 2008;31 Suppl 2:S219–22.PubMedGoogle Scholar
  96. 96.
    Filippi L, et al. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology. 2010;97(3):286–90.PubMedGoogle Scholar
  97. 97.
    Schwahn BC, et al. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. Eur J Pediatr. 2010;169(1):133–4.PubMedGoogle Scholar
  98. 98.
    Kasapkara CS, et al. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia. Eur J Pediatr. 2011;170(6):799–801.PubMedGoogle Scholar
  99. 99.
    Abacan M, Boneh A. Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. Mol Genet Metab. 2013;109(4):397–401.PubMedGoogle Scholar
  100. 100.
    Matern D, et al. Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr. 1996;129(5):758–60.PubMedGoogle Scholar
  101. 101.
    Mayatepek E, Schulze A. Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiency. J Inherit Metab Dis. 1999;22(2):189–90.PubMedGoogle Scholar
  102. 102.
    Van Calcar SC, et al. Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis. 1998;21(7):729–37.PubMedGoogle Scholar
  103. 103.
    van’t Hoff WG, et al. Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr. 1998;132(6):1043–4.Google Scholar
  104. 104.
    Lubrano R, et al. Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol. 2001;16(11):848–51.PubMedGoogle Scholar
  105. 105.
    Nagarajan S, et al. Management of methylmalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis. 2005;28(4):517–24.PubMedGoogle Scholar
  106. 106.
    Lubrano R, et al. 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. 2007;22(8):1209–14.PubMedGoogle Scholar
  107. 107.
    Mc Guire PJ, et al. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab. 2008;93(1):22–9.PubMedGoogle Scholar
  108. 108.
    Clothier JC, et al. Renal transplantation in a boy with methylmalonic acidaemia. J Inherit Metab Dis. 2011;34(3):695–700.PubMedGoogle Scholar
  109. 109.
    Yorifuji T, et al. Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr. 2000;137(4):572–4.PubMedGoogle Scholar
  110. 110.
    Barshes NR, et al. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant. 2006;10(7):773–81.PubMedGoogle Scholar
  111. 111.
    Kasahara M, et al. Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediatr Transplant. 2006;10(8):943–7.PubMedGoogle Scholar
  112. 112.
    Chen PW, et al. Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation. Pediatr Transplant. 2010;14(3):337–41.PubMedGoogle Scholar
  113. 113.
    Vara R, et al. Liver transplantation for propionic acidemia in children. Liver Transpl. 2011;17(6):661–7.PubMedGoogle Scholar
  114. 114.
    Brassier A, et al. Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease. Mol Genet Metab. 2013;110(1–2):106–10.PubMedGoogle Scholar
  115. 115.
    Nagao M, et al. Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. Mol Genet Metab. 2013;108(1):25–9.PubMedGoogle Scholar
  116. 116.
    Ou P, et al. A rare cause of cardiomyopathy in childhood: propionic acidosis. Three case reports. Arch Mal Coeur Vaiss. 2001;94(5):531–3.PubMedGoogle Scholar
  117. 117.
    Kasahara M, et al. Living-donor liver transplantation for propionic acidemia. Pediatr Transplant. 2012;16(3):230–4.PubMedGoogle Scholar
  118. 118.
    Chakrapani A, et al. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr. 2002;140(2):261–3.PubMedGoogle Scholar
  119. 119.
    Nyhan WL, et al. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr. 2002;161(7):377–9.PubMedGoogle Scholar
  120. 120.
    Arnold GL, et al. Methylcitrate/citrate ratio as a predictor of clinical control in propionic acidemia. J Inherit Metab Dis. 2003;26(suppl 2):37.Google Scholar
  121. 121.
    Zwickler T, et al. Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative? J Inherit Metab Dis. 2012;35(5):797–806.PubMedGoogle Scholar
  122. 122.
    Zwickler T, et al. Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis. 2014;37(1):31–7.PubMedGoogle Scholar
  123. 123.
    Mountain States Genetics Regional Collaborative Propionic Acidemia: care plan & shared dataset. 2013. 21 Feb 2009 [cited 2014 Oct 2]; Available from: http://www.msgrcc.org/consortium/Propionic_Acidemia/PPA_revison.pdf
  124. 124.
    Surtees RA, Matthews EE, Leonard JV. Neurologic outcome of propionic acidemia. Pediatr Neurol. 1992;8(5):333–7.PubMedGoogle Scholar
  125. 125.
    Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child. 1998;78(6):508–12.PubMedCentralPubMedGoogle Scholar
  126. 126.
    O’Shea CJ, et al. Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics. 2012;129(6):e1541–51.PubMedCentralPubMedGoogle Scholar
  127. 127.
    Grünert SC, et al. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis. 2012;7:9.PubMedCentralPubMedGoogle Scholar
  128. 128.
    van der Meer SB, et al. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr. 1994;125(6 Pt 1):903–8.PubMedGoogle Scholar
  129. 129.
    Fischer AQ, et al. Cerebellar hemorrhage complicating isovaleric acidemia: a case report. Neurology. 1981;31(6):746–8.PubMedGoogle Scholar
  130. 130.
    Dave P, Curless RG, Steinman L. Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol. 1984;41(12):1293–6.PubMedGoogle Scholar
  131. 131.
    van der Meer SB, et al. Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur J Pediatr. 1996;155(3):205–10.PubMedGoogle Scholar
  132. 132.
    Ledley FD, et al. Benign methylmalonic aciduria. N Engl J Med. 1984;311(16):1015–8.PubMedGoogle Scholar
  133. 133.
    Treacy E, et al. Methylmalonic acidemia with a severe chemical but benign clinical phenotype. J Pediatr. 1993;122(3):428–9.PubMedGoogle Scholar
  134. 134.
    Grünert SC, et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012;35(1):41–9.PubMedGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Clinical Genetics and MetabolismChildren’s Hospital Colorado, University of Colorado Denver – Anschutz Medical CampusAuroraUSA

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