Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate, Inc. and/or its affiliates. All Rights Reserved.

Organic acidemias

Olaf A Bodamer, MD, PhD, FAAP, FACMG
Section Editors
Sihoun Hahn, MD, PhD
Marc C Patterson, MD, FRACP
Deputy Editor
Elizabeth TePas, MD, MS


Organic acidemias, also known as organic acidurias, are a group of disorders characterized by increased excretion of organic acids in urine. They result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids. Enzyme deficiencies in beta oxidation of fatty acids or carbohydrate metabolism cause elevated levels of non-amino organic acids. Abnormal organic acid levels also are found in the urine of some patients with mitochondrial disease [1].

Most organic acidemias become clinically apparent during the newborn period or early infancy. After an initial period of well-being, affected children develop a life-threatening episode of metabolic acidosis characterized by an increased anion gap. This presenting episode may be mistaken for sepsis and, if unrecognized, is associated with significant mortality.

Children with an organic acidemia are susceptible to metabolic decompensation during episodes of increased catabolism, such as intercurrent illness, trauma, surgery, or prolonged episodes of fasting. Parents and clinicians must be well informed about the initial signs of decompensation and trained in applying an emergency regimen [2,3]. Surgeons and anesthesiologists should be aware of potential complications and their prevention during anesthesia and surgery.

Diagnosis has been facilitated through the use of gas chromatograph-mass spectrometry (GC-MS) and tandem mass spectrometry [4]. Prenatal diagnosis is available for most disorders by detection of diagnostic compounds in amniotic fluid, by analysis of enzyme activities in amniocytes or chorionic villi, by molecular analysis, or by a combination of the three [5]. Diagnosis also may be made through newborn screening by tandem mass spectrometry, which is available in all states of the United States, Australia, and many European and Asian countries [6].


Organic acidemias can be classified as follows [1,7-9]:

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:

Subscribers log in here

Literature review current through: Nov 2017. | This topic last updated: Dec 16, 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
  1. Nyhan WL, Ozand PT. Atlas of Metabolic Diseases, 1st ed, Chapman and Hall Medical, London 1998.
  2. Morris AA, Leonard JV. Early recognition of metabolic decompensation. Arch Dis Child 1997; 76:555.
  3. Dixon MA, Leonard JV. Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child 1992; 67:1387.
  4. Rashed MS, Rahbeeni Z, Ozand PT. Application of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol 1999; 23:183.
  5. Fowler B, Giles L, Sardharwalla IB, et al. First trimester diagnosis of methylmalonic aciduria. Prenat Diagn 1988; 8:207.
  6. Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007; 30:439.
  7. Fowler B. Genetic defects of folate and cobalamin metabolism. Eur J Pediatr 1998; 157 Suppl 2:S60.
  8. Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 1999; 22:381.
  9. Hoffmann GF, Gibson KM, Trefz FK, et al. Neurological manifestations of organic acid disorders. Eur J Pediatr 1994; 153:S94.
  10. Leonard JV, Morris AA. Inborn errors of metabolism around time of birth. Lancet 2000; 356:583.
  11. Inoue S, Krieger I, Sarnaik A, et al. Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. Pediatr Res 1981; 15:95.
  12. MacFarland S, Hartung H. Pancytopenia in a patient with methylmalonic acidemia. Blood 2015; 125:1840.
  13. Bier DM, Leake RD, Haymond MW, et al. Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideuteroglucose. Diabetes 1977; 26:1016.
  14. Rajpoot DK, Gargus JJ. Acute hemodialysis for hyperammonemia in small neonates. Pediatr Nephrol 2004; 19:390.
  15. Di Donato S, Rimoldi M, Garavaglia B, Uziel G. Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta 1984; 139:13.
  16. Levrat V, Forest I, Fouilhoux A, et al. Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis 2008; 3:2.
  17. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: The metabolic and molecular bases of inherited disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York 2001. p.2165.
  18. Ledley FD, Jansen R, Nham SU, et al. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. Proc Natl Acad Sci U S A 1990; 87:3147.
  19. Bikker H, Bakker HD, Abeling NG, et al. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 2006; 27:640.
  20. Wappner RS. Disorders of amino acid and organic acid metabolism. In: Oski's pediatrics: Principles and practice, 4th ed, McMillan JA, Feigin RD, DeAngelis C, Jones MD (Eds), Lippincott, Williams & Wilkins, Philadelphia 2006. p.2153.
  21. Dobson CM, Wai T, Leclerc D, et al. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A 2002; 99:15554.
  22. Dobson CM, Wai T, Leclerc D, et al. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet 2002; 11:3361.
  23. Miousse IR, Watkins D, Coelho D, et al. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr 2009; 154:551.
  24. Lerner-Ellis JP, Anastasio N, Liu J, et al. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat 2009; 30:1072.
  25. Coelho D, Suormala T, Stucki M, et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 2008; 358:1454.
  26. Rutsch F, Gailus S, Miousse IR, et al. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet 2009; 41:234.
  27. Coelho D, Kim JC, Miousse IR, et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet 2012; 44:1152.
  28. Sloan JL, Johnston JJ, Manoli I, et al. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet 2011; 43:883.
  29. Aminoff M, Carter JE, Chadwick RB, et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 1999; 21:309.
  30. Coulombe JT, Shih VE, Levy HL. Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria. Pediatrics 1981; 67:26.
  31. Rosenblatt DS, Aspler AL, Shevell MI, et al. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 1997; 20:528.
  32. Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology 2001; 56:1113.
  33. George JN, Nester CM. Syndromes of thrombotic microangiopathy. N Engl J Med 2014; 371:654.
  34. Grangé S, Bekri S, Artaud-Macari E, et al. Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency. Lancet 2015; 386:1011.
  35. Sniderman LC, Lambert M, Giguère R, et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr 1999; 134:675.
  36. Underhill HR, Hahn SH, Hale SL, Merritt JL 2nd. Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). Pediatr Int 2013; 55:e156.
  37. Manoli I, Myles JG, Sloan JL, et al. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. Genet Med 2016; 18:386.
  38. Manoli I, Myles JG, Sloan JL, et al. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. Genet Med 2016; 18:396.
  39. Thompson GN, Chalmers RA, Walter JH, et al. The use of metronidazole in management of methylmalonic and propionic acidaemias. Eur J Pediatr 1990; 149:792.
  40. Koletzko B, Bachmann C, Wendel U. Antibiotic therapy for improvement of metabolic control in methylmalonic aciduria. J Pediatr 1990; 117:99.
  41. Manoli I, Sysol JR, Li L, et al. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A 2013; 110:13552.
  42. van't Hoff W, McKiernan PJ, Surtees RA, Leonard JV. Liver transplantation for methylmalonic acidaemia. Eur J Pediatr 1999; 158 Suppl 2:S70.
  43. van 't Hoff WG, Dixon M, Taylor J, et al. Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr 1998; 132:1043.
  44. Mc Guire PJ, Lim-Melia E, Diaz GA, et al. Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab 2008; 93:22.
  45. Niemi AK, Kim IK, Krueger CE, et al. Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. J Pediatr 2015; 166:1455.
  46. Sakamoto R, Nakamura K, Kido J, et al. Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. Pediatr Transplant 2016; 20:1081.
  47. Brismar J, Ozand PT. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol 1994; 15:1459.
  48. Molteni KH, Oberley TD, Wolff JA, Friedman AL. Progressive renal insufficiency in methylmalonic acidemia. Pediatr Nephrol 1991; 5:323.
  49. Baumgarter ER, Viardot C. Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 1995; 18:138.
  50. Paik KH, Lee JE, Jin DK. Successful dialysis in a boy with methylmalonic acidemia. Pediatr Nephrol 2004; 19:1180.
  51. Schmitt CP, Mehls O, Trefz FK, et al. Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria. Pediatr Nephrol 2004; 19:1182.
  52. Kahler SG, Sherwood WG, Woolf D, et al. Pancreatitis in patients with organic acidemias. J Pediatr 1994; 124:239.
  53. Prada CE, Al Jasmi F, Kirk EP, et al. Cardiac disease in methylmalonic acidemia. J Pediatr 2011; 159:862.
  54. Ozand PT. Hypoglycemia in association with various organic and amino acid disorders. Semin Perinatol 2000; 24:172.
  55. Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, et al. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 1999; 14:275.
  56. Kraus JP, Spector E, Venezia S, et al. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis 2012; 35:51.
  57. Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 2005; 85:286.
  58. Romano S, Valayannopoulos V, Touati G, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010; 156:128.
  59. Pena L, Burton BK. Survey of health status and complications among propionic acidemia patients. Am J Med Genet A 2012; 158A:1641.
  60. Baumgartner D, Scholl-Bürgi S, Sass JO, et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 2007; 150:192.
  61. Jameson E, Walter J. Cardiac arrest secondary to long QT(C )in a child with propionic acidemia. Pediatr Cardiol 2008; 29:969.
  62. Bultron G, Seashore MR, Pashankar DS, Husain SZ. Recurrent acute pancreatitis associated with propionic acidemia. J Pediatr Gastroenterol Nutr 2008; 47:370.
  63. Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology 2003; 110:1850.
  64. Gebhardt B, Dittrich S, Parbel S, et al. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28:241.
  65. Grünert SC, Müllerleile S, de Silva L, et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis 2012; 35:41.
  66. Sutton VR, Chapman KA, Gropman AL, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 2012; 105:26.
  67. Chapman KA, Gropman A, MacLeod E, et al. Acute management of propionic acidemia. Mol Genet Metab 2012; 105:16.
  68. Hillman RE, Keating JP, Williams JC. Biotin-responsive propionic acidemia presenting as the rumination syndrome. J Pediatr 1978; 92:439.
  69. Vara R, Turner C, Mundy H, et al. Liver transplantation for propionic acidemia in children. Liver Transpl 2011; 17:661.
  70. Saudubray JM, Touati G, Delonlay P, et al. Liver transplantation in propionic acidaemia. Eur J Pediatr 1999; 158 Suppl 2:S65.
  71. Kasahara M, Sakamoto S, Kanazawa H, et al. Living-donor liver transplantation for propionic acidemia. Pediatr Transplant 2012; 16:230.
  72. Squires RH, Ng V, Romero R, et al. Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the American Association for the Study of Liver Diseases, American Society of Transplantation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Hepatology 2014; 60:362.
  73. Rela M, Battula N, Madanur M, et al. Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up. Am J Transplant 2007; 7:2200.
  74. Vermeer N, Meurisse N, Vlasselaers D, et al. Liver transplantation in a patient with an intraabdominally located left ventricular assist device: surgical aspects--case report. Transplant Proc 2012; 44:2885.
  75. Haas RH, Marsden DL, Capistrano-Estrada S, et al. Acute basal ganglia infarction in propionic acidemia. J Child Neurol 1995; 10:18.
  76. Talbot JC, Gummerson NW, Kluge W, et al. Osteoporotic femoral fracture in a child with propionic acidaemia presenting as non-accidental injury. Eur J Pediatr 2006; 165:496.
  77. Ensenauer R, Vockley J, Willard JM, 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; 75:1136.
  78. Mohsen AW, Anderson BD, Volchenboum SL, et al. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry 1998; 37:10325.
  79. Baumgartner MR, Almashanu S, Suormala T, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 2001; 107:495.
  80. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 1999; 14 Suppl 1:S4.
  81. Bannwart C, Wermuth B, Baumgartner R, et al. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 1992; 15:863.
  82. Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 1998; 132:519.
  83. Niu DM, Chien YH, Chiang CC, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010; 33:S295.
  84. Arnold GL, Koeberl DD, Matern D, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008; 93:363.
  85. Mercimek-Mahmutoglu S, Tucker T, Casey B. Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. Mol Genet Metab 2011; 104:410.
  86. Takeda A, Sudo A, Yamada M, et al. Eponym: Barth syndrome. Eur J Pediatr 2011; 170:1365.
  87. Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006; 118:e337.
  88. Kulik W, van Lenthe H, Stet FS, et al. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin Chem 2008; 54:371.
  89. Anikster Y, Kleta R, Shaag A, et al. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001; 69:1218.
  90. Saunders C, Smith L, Wibrand F, et al. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet 2015; 96:258.
  91. Davey KM, Parboosingh JS, McLeod DR, et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 2006; 43:385.
  92. Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Hum Genet 1998; 102:452.
  93. Zinnanti WJ, Lazovic J, Housman C, et al. Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. J Clin Invest 2007; 117:3258.
  94. Kyllerman M, Steen G. Glutaric aciduria. A "common" metabolic disorder? Arch Fr Pediatr 1980; 37:279.
  95. Haworth JC, Booth FA, Chudley AE, et al. Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991; 118:52.
  96. Hartley LM, Khwaja OS, Verity CM. Glutaric aciduria type 1 and nonaccidental head injury. Pediatrics 2001; 107:174.
  97. Hoffmann GF, Trefz FK, Barth PG, et al. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics 1991; 88:1194.
  98. Gordon N. Glutaric aciduria types I and II. Brain Dev 2006; 28:136.
  99. Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet 2003; 121C:38.
  100. Strauss KA, Morton DH. Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet 2003; 121C:53.
  101. Hoffmann GF, Athanassopoulos S, Burlina AB, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27:115.
  102. Zafeiriou DI, Zschocke J, Augoustidou-Savvopoulou P, et al. Atypical and variable clinical presentation of glutaric aciduria type I. Neuropediatrics 2000; 31:303.
  103. Christensen E, Ribes A, Merinero B, Zschocke J. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004; 27:861.
  104. Bodamer O. Subdural hematomas and glutaric aciduria type I. Pediatrics 2001; 107:451.
  105. Morris AA, Hoffmann GF, Naughten ER, et al. Glutaric aciduria and suspected child abuse. Arch Dis Child 1999; 80:404.
  106. Forstner R, Hoffmann GF, Gassner I, et al. Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999; 29:138.
  107. Kölker S, Hoffmann GF, Schor DS, et al. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 2003; 34:253.
  108. Goodman SI, Norenberg MD, Shikes RH, et al. Glutaric aciduria: biochemical and morphologic considerations. J Pediatr 1977; 90:746.
  109. Leibel RL, Shih VE, Goodman SI, et al. Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 1980; 30:1163.
  110. Chow CW, Haan EA, Goodman SI, et al. Neuropathology in glutaric acidaemia type 1. Acta Neuropathol 1988; 76:590.
  111. Bergman I, Finegold D, Gartner JC Jr, et al. Acute profound dystonia in infants with glutaric acidemia. Pediatrics 1989; 83:228.
  112. Soffer D, Amir N, Elpeleg ON, et al. Striatal degeneration and spongy myelinopathy in glutaric acidemia. J Neurol Sci 1992; 107:199.
  113. Kimura S, Hara M, Nezu A, et al. Two cases of glutaric aciduria type 1: clinical and neuropathological findings. J Neurol Sci 1994; 123:38.
  114. Funk CB, Prasad AN, Frosk P, et al. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 2005; 128:711.
  115. Strauss KA. Glutaric aciduria type 1: a clinician's view of progress. Brain 2005; 128:697.
  116. Kölker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis 2011; 34:677.
  117. Gregersen N, Brandt NJ. Ketotic episodes in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Pediatr Res 1979; 13:977.
  118. Zschocke J, Quak E, Guldberg P, Hoffmann GF. Mutation analysis in glutaric aciduria type I. J Med Genet 2000; 37:177.
  119. Cho CH, Mamourian AC, Filiano J, Nordgren RE. Glutaric aciduria: improved MR appearance after aggressive therapy. Pediatr Radiol 1995; 25:484.
  120. Naughten ER, Mayne PD, Monavari AA, et al. Glutaric aciduria type I: outcome in the Republic of Ireland. J Inherit Metab Dis 2004; 27:917.
  121. Heringer J, Boy SP, Ensenauer R, et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 2010; 68:743.