1. Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению (2-е изд., переработанное и дополненное) / М.: Литтерра, 2017.

2. Orngreen MC, Norgaard MG, Sacchetti M, van Engelen BG, Vissing J. Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency. Ann Neurol. 2004 Aug; 56(2): 279 - 83

3. Краснопольская К.Д. Наследственные болезни обмена веществ. Справочное пособие для врачей. / М., 2005. С. 43 - 51.

4. Andresen BS, Olpin S, Poorthuis BJ et al (1999) Clear correlation of genotype with disease phenotype In very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479 - 494;

5. Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep; 18(3): 169 - 89;

6. Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatric Research. 2004; 55(2): 190 - 196. doi: 10.1203/01.PDR.0000103931.80055.06

7. Wilcken B.Recent advances in newborn screening. J Inherit Metab Dis. 2007 Apr; 30(2): 129 - 33.

8. Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis. 2010; 33(5): 501 - 506

9. Baruteau J, Sachs P, Broue P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit Metab Dis. 2013 Sep; 36(5): 795 - 803

10. Saudubray JM, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis. 1999; 22(4): 488 - 502.

11. Bonnet D, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999; 100(22): 2248 - 2253.

12. Wanders R.J.A., Vreken P., den Boer M.E.J. et al. Disorders of mitochondrial fatty acyl-CoA -oxidation. J Inher Metab Dis 1999; 22: 442 - 487.

13. Николаева Е.А., Мамедов И.С. "Диагностика наследственных дефектов обмена жирных кислот у детей" Российский вестник перинатологии и педиатрии, 2008: 6: 66 - 80

14. Николаева Е.А., Леонтьева И.В., Калачанова Е.П., Золкина И.В. Задержка физического развития и кардиомиопатия у ребенка с первичным системным дефицитом карнитина. Трудный пациент 2012; 2 - 3: 50 - 54.

15. МР 2.3.1.2432-08 "Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации" (утв. Главным государственным санитарным врачом РФ 18 декабря 2008 г.).

16. Wilcken B, et al. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme a dehydrogenase deficiency. Lancet. 1993; 341(8842): 407 - 408

17. Makhseed N, et al. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. J Inherit Metab Dis. 2004; 27(6): 778 - 780

18. Wang Y, et al. Phenotype and genotype variation in primary carnitine deficiency. Genet Med. 2001; 3(6): 387 - 392.

19. Innes AM, et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res. 2000; 47(1): 43 - 45

20. Al-Thihli K, Sinclair G, Sirrs S, Mezei M, Nelson J, Vallance H. Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid -oxidation disorders in adult patients with rhabdomyolysis. J Inherit Metab Dis. 2014. Mar; 37(2): 207 - 13.

21. Arnold GL, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009; 96(3): 85 - 90

22. Bach AC, Babayan VK. Medium-chain triglycerides: an update. Am J Clin Nutr. 1982; 36(5): 950 - 962. doi: 10.1093/ajcn/36.5.950.

23. Bartlett K, Eaton S. Mitochondrial -oxidation. Eur J Biochem. 2004; 271(3): 462 - 469.

24. Baruteau J, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit Metab Dis. 2013; 36(5): 795 - 803.

25. Baruteau J, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data. J Inherit Metab Dis. 2014; 37(1): 137 - 139.

26. Bastin J, Lopes-Costa A, Djouadi F. Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. Hum Mol Genet. 2011; 20(10): 2048 - 2057.

27. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep. 2010; 10: 118 - 26.

28. Bleeker JC, Houtkooper RH. Sirtuin activation as a therapeutic approach against inborn errors of metabolism. J Inherit Metab Dis. 2016; 39: 565 - 572.

29. Bleeker JC, Kok IL, Ferdinandusse S, et al. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2018.

30. Bonnefont JP, et al. Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. Clin Pharmacol Ther. 2010; 88(1): 101 - 108.

31. Borch L, et al. Normal levels of plasma free carnitine and Acylcarnitines in follow-up samples from a Presymptomatic case of carnitine Palmitoyl transferase 1 (CPT1) deficiency detected through newborn screening in Denmark. JIMD Rep. 2012; 3: 11 - 15.

32. Burrage LC, et al. Elevations of C14: 1 and C14: 2 plasma Acylcarnitines in fasted children: a diagnostic dilemma. J Pediatr. 2016; 169: 208 - 213. e2.

33. Chegary M, et al. Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta. 2009; 1791(8): 806 - 815.

34. Cox GF, et al. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr. 1998; 133(2): 247 - 253.

35. Cox PJ, et al. Nutritional ketosis alters fuel preference and thereby endurance performance in athletes. Cell Metab. 2016; 24(2): 256 - 268.

36. De Biase I, et al. Diagnosis, treatment, and clinical outcome of patients with mitochondrial trifunctional protein/long-chain 3-Hydroxy acyl-CoA dehydrogenase deficiency. JIMD Rep. 2017; 31: 63 - 71. doi: 10.1007/8904_2016_558.

37. Demaugre F, et al. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res. 1988; 24(3): 308 - 311.

38. Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: Clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005; 62: 37 - 41.

39. Diekman E, et al. The newborn screening paradox: sensitivity vs. Overdiagnosis in VLCAD deficiency. JIMD Rep. 2016; 27: 101 - 106.

40. Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G. Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. Genet Med. 2015 Apr 2.

41. Diekman EF, van Weeghel M, Wanders RJ, Visser G, Houten SM. Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models. FASEB J. 2014 Jul; 28(7): 2891 - 900.

42. Djouadi F, et al. Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet. 2005; 14(18): 2695 - 2703.

43. Djouadi F, et al. Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells. J Clin Endocrinol Metab. 2005; 90(3): 1791 - 1797.

44. Elsayed EF, Reilly RF. Rhabdomyolysis: A review, with emphasis on the pediatric population. Pediatr Nephrol. 2010; 25: 7 - 18.

45. Erguven Muferet, Yilmaz Oznur, Koc Seher, Caki Suar, Ayhan Yusuf, Donmez Metin, Dolunay Gulderen. A Case of Early Diagnosed Carnitine Deficiency Presenting with Respiratory Symptoms. Annals of Nutrition and Metabolism. 2007; 51(4): 331 - 334. doi: 10.1159/000107675.

46. Evans M, et al. VLCAD deficiency: follow-up and outcome of patients diagnosed through newborn screening in Victoria. Mol Genet Metab. 2016; 118(4): 282 - 287.

47. Gillingham MB, et al. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis. 2017; 40(6): 831 - 843.

48. Houten SM, Violante S, Ventura FV, Wanders RJA. The biochemistry and physiology of mitochondrial fatty acid beta-oxidation and its genetic disorders. Annu Rev Physiol. 2016; 78: 23 - 44.

49. Ibdah JA. Acute fatty liver of pregnancy: an update on pathogenesis and clinical implications. World J Gastroenterol. 2006; 12(46): 7397 - 7404.

50. IJlst L, et al. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest. 1996; 98(4): 1028 - 1033.

51. Kilfoyle D, Hutchinson D, Potter H, George P. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: Clinical, biochemical, and genetic features of adult-onset cases. N Z Med J. 2005; 118: U1320.

52. Kluge Stefan, Kuhnelt Peter, Block Andreas, Merkel Martin, Gocht Andreas, Lukacs Zoltan, Kohlschutter Alfried, Kreymann Georg. A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: Recognizing fatty acid oxidation defects in adults. Critical Care Medicine. 2003; 31(4): 1273 - 1276.

53. Liu J, Ghaziani TT, Wolf JL. Acute fatty liver disease of pregnancy: updates in pathogenesis, diagnosis, and management. Am J Gastroenterol. 2017; 112(6): 838 - 846.

54. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006; 142c(2): 77 - 85. doi: 10.1002/ajmg.c.30087

55. Lopaschuk GD, et al. Myocardial fatty acid metabolism in health and disease. Physiol Rev. 2010; 90(1): 207 - 258.

56. Moore SJ, Haites NE, Broom I, White I, Coleman RJ, Pourfarzam M, et al. Acylcarnitine analysis in the investigation of myopathy. J Inherit Metab Dis. 1998; 21: 427 - 8.

57. Moorthie S, et al. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. J Inherit Metab Dis. 2014; 37(6): 889 - 898.

58. Oliveira SF, Pinho L, Rocha H, Nogueira C, Vilarinho L, Dinis MJ, Silva C. Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency. Clin Pract. 2013 Aug 6; 3(2): e22.

59. Rashed MS, et al. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res. 1995; 38(3): 324 - 331.

60. Saudubray JM, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis. 1999; 22(4): 488 - 502. doi: 10.1023/A:1005556207210.

61. Sharef Waadallah Sharef, Khalfan Al-Senaidi, and Surendra Nath Joshi. Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review. Oman Medical Journal (2013) Vol. 28, No. 5: 354 - 356.

62. Solis JO, Singh RH. Management of fatty acid oxidation disorders: A survey of current treatment strategies. J Am Diet Assoc. 2002; 102: 1800 - 3.

63. Spiekerkoetter U, Bastin J., Gillingham M., Morris A // Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis. 2010 Oct; 33(5): 555 - 61. doi: 10.1007/s10545-010-9188-1.

64. Spiekerkoetter U, et al. Lethal undiagnosed very long-chain acyl-CoA dehydrogenase deficiency with mild C14-Acylcarnitine abnormalities on newborn screening. JIMD Rep. 2012; 6: 113 - 115.

65. Spiekerkoetter U, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009; 32(4): 488 - 497. doi: 10.1007/s10545-009-1125-9.

66. Spiekerkoetter U, Lindner M, Santer R, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis. 2009; 32: 498 - 505. doi: 10.1007/s10545-009-1126-8

67. Spiekerkoetter U, Mayatepek E. Update on mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis. 2010; 33(5): 467 - 468. doi: 10.1007/s10545-010-9208-1.

68. Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis. 2010; 33(5): 527 - 532. doi: 10.1007/s10545-010-9090-x.

69. Tenopoulou M, Chen J, Bastin J, Bennett MJ, Ischiropoulos H, Doulias PT. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency. J Biol Chem. 2015 Apr 17; 290(16): 10486 - 94.

70. Topcu Y, et al. Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: report of two cases. Ann Indian Acad Neurol. 2014; 17(4): 437 - 440.

71. Tucci S, Flogel U, Hermann S, Sturm M, Schafers M, Spiekerkoetter U. Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD (-/-)) mice. Biochim Biophys Acta. 2014 May; 1842(5): 677 - 85.

72. Wust RC, et al. Ketones and inborn errors of metabolism: old friends revisited. J Inherit Metab Dis. 2017; 40(1): 3 - 4.

73. Xiong D, He H, James J, et al. Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance. Am J Physiol Heart Circ Physiol. 2014 Feb; 306(3): H326 - 38.

74. Goetzman ES. Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders. Curr Genet Med Rep. 2017; 5(3): 132 - 142. doi: 10.1007/s40142-017-0125-6

75. Pedersen CB, Kolvraa S, Kolvraa A, et al. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 2008; 124: 43 - 56. 10.1007/s00439-008-0521-9

76. Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2018 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK63582/https://www.ncbi.nlm.nih.gov/books/NBK63582/

77. Martins E, Cardoso ML, Rodrigues E, et al. Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis 2011; 34: 835 - 42. 10.1007/s10545-011-9287-7

78. Kapoor RR, James C, Flanagan SE, et al. 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab 2009; 94: 2221 - 5. 10.1210/jc.2009-0423

79. Clayton PT, Eaton S, Aynsley-Green A, et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001; 108: 457 - 65. 10.1172/JCI200111294

80. Tyni T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency. Am J Obstet Gynecol. 1998; 178(3): 603 - 608

81. "Nutrition Management of Inherited Metabolic Diseases" Laurie E. Bernstein, Fran Rohr, Joanna R. Helm 2015, Springer.com DOI 10.1007/978-3-319-14621-8 XIV

82. Magoulas, P.L., El-Hattab, A.W. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 7, 68 (2012). https://doi.org/10.1186/1750-1172-7-68

83. Stanley CA, Bennett MJ, Longo N: Plasma membrane carnitine transporter defect. Online metabolic and molecular bases of inherited disease. Edited by Valle D, Beaudet AL, Vogelstein B, Kinzler KW, et al. 2006. http://www.ommbid.com/. Published January 2006. Updated March 28, 2011

84. Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects Med. 2004; 25: 521 - 532. doi: 10.1016/j.mam.2004.06.007

85. Brivet M (2004) Carnitine-acylcarnitine translocase deficiency. Orphanet Encyclopedia 1 - 5

86. Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E. Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. J Inherit Metab Dis. 2010; 33: 495 - 500. doi: 10.1007/s10545-009-9000-2

87. Vitoria I, Martin-Hernindez E, Pena-Quintana L, et al. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. JIMD Rep. 2015; 20: 11 - 20. doi: 10.1007/8904_2014_382

88. Iacobazzi V, Pasquali M, Singh R, et al. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A. 2004; 126A: 150 - 155. doi: 10.1002/ajmg.a.20573

89. Spiekerkoetter U, Duran M. Mitochondrial fatty acid oxidation defects. In: Blau N, Duran M, Gibson KM, Dionisi-Visi C, editors. Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Berlin/Heidelberg: Springer-Verlag; 2014. pp. 247 - 264

90. Rubio-Gozalbo ME, Vos P, Forget PP, et al. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. Acta Paediatr. 2003; 92: 501 - 504. doi: 10.1111/j.1651-2227.2003.tb00586.x.

91. Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. 2005 Jul 27 [Updated 2016 Mar 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1527/https://www.ncbi.nlm.nih.gov/books/NBK1527/

92. Angelini, C., Federico, A., Reichmann, H., Lombes, A., Chinnery, P. and Turnbull, D. (2006), Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. European Journal of Neurology, 13: 923 - 929. doi: 10.1111/j.1468-1331.2006.01482.x

93. Better OS, Stein GH. Early management of shock and prophylaxis of acute renal failure in traumatic rhabdomyolisis. The New England Journal of Medicine 1990; 322: 825 - 82

94. Merritt JL 2nd, Chang IJ. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. 2000 Apr 20 [Updated 2019 Jun 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1424/https://www.ncbi.nlm.nih.gov/books/NBK1424/

95. Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA. L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. J Inherit Metab Dis. 2005; 28: 141 - 52.

96. Madsen KL, Preisler N, Orngreen MC, Andersen SP, Olesen JH, Lund AM, Vissing J. Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. J Clin Endocrinol Metab. 2013; 98: 1667 - 75.

97. Saud H. Aldubayan, Lance H. Rodan, Gerard T. Berry, Harvey L. Levy. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatric Emergency Care, 2017. V33, Number 4, p 300.

98. (Clinical paediatric dietetics / edited by Vanessa Shaw. - Fourth edition. Copyright 2015 John Wiley & Sons, Ltd, Print ISBN: 9780470659984 (Online ISBN: 9781118915349 (DOI: 10.1002/9781118915349)

99. [Lang TF. Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). J Inherit Metab Dis. 2009; 32: 675 - 83].

100. [Uppala R, Dudiak B, Beck ME, Bharathi SS, Zhang Y, Stolz DB, Goetzman ES. Aspirin increases mitochondrial fatty acid oxidation. Biochem Biophys Res Commun. 2017; 482: 346 - 51].

101. Fraser H, Geppert J, Johnson R, et al. Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review. Orphanet J Rare Dis. 2019; 14(1): 258. Published 2019 Nov 15. doi: 10.1186/s13023-019-1226-y

102. Yamada, K., Taketani, T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. J Hum Genet 64, 73 - 85 (2019). https://doi.org/10.1038/s10038-018-0527-7

103. Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab 2008; 93: 36 - 9. 10.1016/j.ymgme.2007.09.015]

104. [Gharbawy A, Vockley J. Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System. Pediatr Clin North Am 2018; 65: 317 - 35. 10.1016/j.pcl.2017.11.006].

105. Merritt JL 2nd, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann Transl Med. 2018; 6(24): 473. doi: 10.21037/atm.2018.10.57.

106. Bosch AM, Abeling NG, Ijlst L, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011; 34(1): 159 - 164. doi: 10.1007/s10545-010-9242-z.

107. Roe CR, Mochel F. Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. J Inherit Metab Dis. 2006; 29: 332 - 340. doi: 10.1007/s10545-006-0290-3.)

108. Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, Van Den Berg MP, Sauer PJ, Smit GP. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr. 2006; 148: 665 - 70

109. U. Spiekerkoetter & M. Lindner & R. Santer & M. Grotzke & M.R. Baumgartner & H. Boehles & A. Das & C. Haase & J.B. Hennermann & D. Karall & H. de Klerk & I. Knerr & H.G. Koch & B. Plecko & W. Roschinger & K.O. Schwab & D. Scheible & F.A. Wijburg & J. Zschocke & E. Mayatepek & U. Wendel. Treatment recommendations in long-chain fatty acid oxidationdefects: consensus from a workshop. May 2009 Journal of Inherited Metabolic Disease 32(4): 498 - 505. DOI: 10.1007/s10545-009-1126-8

110. J. Lawrence Merritt 2nd, Erin MacLeod, Agnieszka Jurecka & Bryan Hainline. Clinical manifestations and management of fatty acid oxidation disorders. Reviews in Endocrine and Metabolic Disorders volume 21, pages 479 - 493 (2020).

111. Prasun P. Multiple Acyl-CoA Dehydrogenase Deficiency. 2020 Jun 18. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK558236/

112. Gillingham et al. 2006; Spiekerkoetter 2007.

113. Boer den MEJ, Wanders RJA, Morris AAM, IJLst L, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics. 2002; 109(1): 99 - 104

114. Boer den MEJ, Dionisi-Vici C, Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003; 142(6): 684 - 689. doi: 10.1067/mpd.2003.231

115. Tyni T, Johnson M, Eaton S, Pourfarzam M, Andrews R, Turnbull DM. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. Pediatric Research. 2002; 52(4): 595 - 600. doi: 10.1203/00006450-200210000-00021

116. Oey NA, Ruiter JPN, Attie-Bitach T, IJLst L, Wanders RJA, Wijburg FA. Fatty acid oxidation in the human fetus: implications for fetal and adult disease. J Inherit Metab Dis. 2006; 29(1): 71 - 75. doi: 10.1007/s10545-006-0199-x

117. Fletcher AL, Pennesi ME, harding CO, Weleber RG, Gillingham MB. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Molecular Genetics and Metabolism. 2012. doi: 10.1016/j.ymgme.2012.02.015

118. Makhseed N., Vallance H.D., Potter M. et all. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy//J.Inherit.Metab.Dis.27 (2004): 778 - 780; https://doi.org/10.1023/B:BOLI.0000045837.23328.f4

119. Brivet M., et all. Defects in activation and transport of fatty acids. 1999. https://doi.org/10.1023/A:1005552106301

120. Vianey-Saban C., Stremler N., Paut O. et al. (1995). Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset. J Inherit Metab Dis 18: 362 - 363.

121. Taroni F., Verderio E., Fiorucci S., et al. (1992). Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89: 8429 - 8433.

122. North K.N., Hoppel C.L. et all Lethal neonatal deficiency of carnitine palmitoiltransferase II associated with dysgenesis of the brain and kidneys. J. Pediatr 1995; 127: 414

123. Mathur A., Sims H.F., Gopalakrishnan D. et al. Molecular heterogeneity in very long chain acyl CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 1999; 99: 1337 - 1343.

124. Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, et al. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev. 2005; 27: 443 - 446.

125. O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis. 2019; 42: 598 - 607.

126. Olsen R.K., Konarikova E., Giancaspero T.A. et al. Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am J Hum Genet. 2016; 98: 1130 - 1145.

127. Schiff M., Veauville-Merllie A., Su C.H. et al. SLC25A32 mutations and riboflavin-responsive exercise intolerance. N Engl J Med. 2016; 374: 795 - 797

128. Hellebrekers D.M., Sallevelt S.C., Theunissen T.E. et al. Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. Eur J Hum Genet. 2017; 25: 886 - 888.

129. Sklirou E., Alodaib A.N., Dobrowolski S.F. et al. Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders//Front. Genet., 15 January 2021 / https://doi.org/10.3389/fgene.2020.598760

130. Helene Ogier de Baulny, Andrea Superti-Furga. Disorders of mitochondrial fatty acid oxidation and ketone body metabolism. In: Blau N., Hoffmann G.F., Leonard J.V., Clarke J.T.R. Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer Science & Business Media, pp 147 - 160 (http://eknygos.lsmuni.lt/springer/365/147-160.pdf)

131. А.В. Дегтярева, И.В. Никитина, И.В. Орловская, Е.Ю. Захарова, Г.В. Байдакова, О.В. Ионов, Д.Ю. Амирханова, А.В. Левадная. Дефицит ацил-коэнзим ФА дегидрогеназы жирных кислот с очень длинной углеродной цепью

132. Amaral, Alexandre U., Cecatto, Cristiane, Silva, Janaina C. da, Wajner, Alessandro, & Wajner, Moacir. (2017). Mechanistic Bases of Neurotoxicity Provoked by Fatty Acids Accumulating in MCAD and LCHAD Deficiencies. Journal of Inborn Errors of Metabolism and Screening, 5, e160052. Epub May 16, 2019

133. Smith E, Fernandez C, Melander O, Ottosson F. Altered Acylcarnitine Metabolism Is Associated With an Increased Risk of Atrial Fibrillation. J Am Heart Assoc. 2020 Nov 3; 9(21): e016737, https://emedicine.medscape.com/article/2087425-overview#a4

134. Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2007 Jan; 90(1): 64 - 9. doi: 10.1016/j.ymgme.2006.08.002.

135. DiDonato S, Gellera C, Peluchetti D, Uziel G, Antonelli A, Lus G, Rimoldi M Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

136. Kmoch S., Zeman J, Hrebicek M, Ryba L, Kristensen MJ, Gregersen N.J Inherit Metab Dis Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase. 1995; 18(2): 227 - 9. doi: 10.1007/BF00711774.

137. Harding C.O., Gillingham M.B., van Calcar S.C., Wolff J.A., Verhoeve J.N., Mills M.D. Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 1999. May; 22(3): 276 - 80. doi: 10.1023/a:1005502626406.

138. Sun XL, Yang Z, Wang JL, Sun MN, Wu SY, Wang XY. [Correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme]. Zhonghua Yi Xue Za Zhi. 2011 Aug 9; 91(29): 2026 - 9. Chinese. PMID: 22093928.

139. https://www.awmf.org/uploads/tx_szleitlinien/027-006l_S3_Diagnostik-Therapie-Harnstoffzyklusstoerungen_2018-06.pdf

140. https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0130-8/tables/7

141. Дегтярева А.В., Соколова Е.В., Захарова Е.Ю., Исаева М.Х., Высоких М.Ю., Иванец Т.Ю., Дегтярев Д.Н. Гипераммониемия в практике неонатолога. Рос вестн перинатол и педиатр 2020; 65: (6): 98 - 107. DOI: 10.21508/1027-4065-2020-65-6-98-107

142. Knottnerus, S.J.G., Bleeker, J.C., Wust, R.C.I. et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 19, 93 - 106 (2018). https://doi.org/10.1007/s11154-018-9448-1

143. Zhu, M., Zhu, X., Qi, X., Weijiang, D., Yu, Y., Wan, H., & Hong, D. (2014). Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases and a literature review in mainland Chinese patients. Journal of Human Genetics, 59(5), 256 - 261. doi: 10.1038/jhg.2014.10

144. Wanders RJ, Visser G, Ferdinandusse S, Vaz FM, Houtkooper RH. Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment. J Lipid Atheroscler. 2020 Sep; 9(3): 313 - 333. https://doi.org/10.12997/jla.2020.9.3.313

145. Kompare M. & Rizzo W. B. Mitochondrial Fatty-Acid Oxidation Disorders. Seminars in Pediatric Neurology. 2008. 15(3), 140 - 149. doi: 10.1016/j.spen.2008.05.008

146. El-Hattab, Ayman W; Li, Fang-Yuan; Shen, Joseph; Powell, Berkley R; Bawle, Erawati V; Adams, Darius J; Wahl, Erica; Kobori, Joyce A; Graham, Brett; Scaglia, Fernando; Wong, Lee-Jun (2010). Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects. Genetics in Medicine, 12(1), 19 - 24. doi: 10.1097/GIM.0b013e3181c5e6f7

147. Lisa A. Schimmenti; Eric A. Crombez; Bernd C. Schwahn; Bryce A. Heese; Timothy C. Wood; Richard J. Schroer; Kristi Bentler; Stephen Cederbaum; Kiki Sarafoglou; Mark McCann; Piero Rinaldo; Dietrich Matern; Cristina Amat di San Filippo; Marzia Pasquali; Susan A. Berry; Nicola Longo (2007). Expanded newborn screening identifies maternal primary carnitine deficiency. 90(4), 0 - 445. doi: 10.1016/j.ymgme.2006.10.003

148. S.E. Olpin, J. Allen, J.R. Bonham et al. Features of carnitine palmitoyltransferase type I deciency J. Inherit. Metab. Dis. 24 (2001) 35 - 42

149. Nyhan, W.L., Hoffmann, G.F., Al-Aqeel, A.I., & Barshop, B.A. (2019). Atlas of Inherited Metabolic Diseases (4th ed.). CRC Press. https://doi.org/10.1201/9781315114033

150. F Feillet, G Steinmann, C Vianey-Saban, C de Chillou, N Sadoul, E Lefebvre, M Vidailhet, PE Bollaert Adult presentation of MCAD deficiency revealed by coma and severe arrythmias Intensive Care Med (2003) 29: 1594 - 1597 DOI 10.1007/s00134-003-1871-3

151. https://www.newenglandconsortium.org/mcadd

152. Savy N, Brossier D, Brunel-Guitton C, Ducharme-Crevier L, Du Pont-Thibodeau G, Jouvet P. Acute pediatric hyperammonemia: current diagnosis and management strategies. Hepat Med. 2018 Sep 12; 10: 105 - 115. doi: 10.2147/HMER.S140711. PMID: 30254497; PMCID: PMC6140721.

153. https://www.uptodate.com/contents/insulin-regular-pediatric-drug-information?search=insulin&topicRef=85908&source=see_link

154. Matoori S, Leroux JC. Recent advances in the treatment of hyperammonemia. Adv Drug Deliv Rev. 2015 Aug 1; 90: 55 - 68.

155. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012; 7: 68.

156. El-Hattab AW. Systemic Primary Carnitine Deficiency. In: GeneReviews. University of Washington, Seattle, Seattle (WA); 1993. PMID: 22420015.

157. Gillingham MB, Weleber RG, Neuringer M, et al. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metab. 2005 Sep - Oct; 86(1-2): 124 - 33.

158. Gataullina S, Delonlay P, Lemaire E, et al. Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. Dev Med Child Neurol. 2015 Feb; 57(2): 194 - 9.