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Изовалериановая ацидемия/ацидурия

Список литературы

  1. National Organization for Rare Disorders (NORD) website (дата посещения 09.04.21) URL: https://rarediseases.org/rare-diseases/acidemia-isovaleric/
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  6. The Human Gene Mutation Database (посещение 11.04.21) URL: http://www.hgmd.org/
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  24. Lee HH, Lee RS, Lai CK. Et al. A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. Hong Kong Med J. 2010 Jun;16(3):219-22.
  25. Lee YW, Lee DH, Vockley J. et al. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. Mol Genet Metab. 2007 Sep-Oct;92(1-2):71-7.
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  32. Программа оптимизации вскармливания детей первого года жизни в Российской Федерации: методические рекомендации / ФГАУ «НМИЦ здоровья детей» Минздрава России. – М.: б. и., 2019. – 112с.
  33. Sogut A, Acun C, Aydin K. et al. Isovaleric acidaemia: cranial CT and MRI findings. Pediatr Radiol. 2004 Feb;34(2):160-2. 
  34. Brismar J, Ozand PT. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain Dev. 1994 Nov;16 Suppl:104-24. 
  35. Fischer AQ, Challa VR, Burton BK, McLean WT. Cerebellar hemorrhage complicating isovaleric acidemia: a case report. Neurology. 1981 Jun;31(6):746-8.
  36. Papadopoulou-Legbelou K, Gogou M, Evangeliou A. Cardiac Manifestations in Children with Inborn Errors of Metabolism. Indian Pediatr. 2017 Aug 15;54(8):667-673.
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  40. Weinberg GL, Laurito CE, Geldner P. et al. Malignant ventricular dysrhythmias in a patient with isovaleric acidemia receiving general and local anesthesia for suction lipectomy. J Clin Anesth. 1997 Dec;9(8):668-70. 
  41. Chinen Y, Nakamura S, Tamashiro K. et al. Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study. Mol Genet Metab Rep. 2017 Mar 17;11:2-5. 
  42. Shigematsu Y., Sudo M., Momoi T. et al. Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack. Pediatr Res. 1982 Sep;16(9):771-5.
  43. Krieger I., Tanaka K. Therapeutic effects of glycine in isovaleric academia. Pediatr Res. 1976 Jan;10(1):25-9.
  44. Liu X.M., Chen S.Z., Sang Y. et al. Screening of inherited metabolic disorders in ifants with infantile spasms. Cell Biochem Biophys. 2015 May;72(1):61-5.
  45. Häberle J, Chakrapani A, Ah Mew N, Longo N. Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Orphanet J Rare Dis. 2018 Dec 6;13(1):219.
  46. Picca S, Bartuli A, Dionisi-Vici C. Medical management and dialysis therapy for the infant with an inborn error of metabolism. Semin Nephrol. 2008 Sep;28(5):477-80. 
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  48. Naglak M, Salvo R, Madsen K, Dembure P, Elsas L. The treatment of isovaleric acidemia with glycine supplement. Pediatr Res. 1988 Jul;24(1):9-13.
  49. Aldubayan SH, Rodan LH, Berry GT. et al. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb;33(2):142-146.
  50. UpToDate Diagnostic approach to hypoglycemia in infants and children (This topic last updated: Oct 13, 2020) https://www.uptodate.com/contents/diagnostic-approach-to-hypoglycemia-in-infants-and-children?search=glucose%20&source=search_result&selectedTitle=2~150&usage_type=default&display_rank=2
  51. Ozanne B, Nelson J, Cousineau J, Lambert M, Phan V, Mitchell G, Alvarez F, Ducruet T, Jouvet P. Threshold for toxicity from hyperammonemia in critically ill children. J Hepatol. 2012 Jan;56(1):123-8. 
  52. Molema F, Gleich F, Burgard P. et al. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Mol Genet Metab. 2019 Apr;126(4):397-405.
  53. Kasapkara, C.S., Ezgu, F.S., Okur, I. et al. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia. Eur J Pediatr 170, 799–801 (2011).
  54. Kiykim E, Oguz O, Duman C, Zubarioglu T, Cansever MS, Zeybek ACA. Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias. Mol Genet Metab Rep. 2021 Jan 30;26:100715. 
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  58. William Nyhan, Georg Hoffmann, Bruce Barshop, Aida Al-Aqeel Atlas of Inherited Metabolic Diseases 3E, 2011
  59. Jerry Vockley, Regina Ensenauer Isovaleric Acidemia: New Aspects of Genetic and Phenotypic Heterogeneity Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2): 95–103. doi: 10.1002/ajmg.c.30089
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  63. Feinstein JA, O"Brien K. Acute metabolic decompensation in an adult patient with isovaleric acidemia. South Med J. 2003 May;96(5):500-3. doi: 10.1097/01.SMJ.0000051141.03668.1D. PMID: 12911192.
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  65. Kölker, S., Valayannopoulos, V., Burlina, A.B.,  et al   The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis, 2015, 38: 1059-1074. https://doi.org/10.1007/s10545-015-9840-x
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  70. 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
  71. https://www.filiere-g2m.fr/media/attachments/2023/04/27/en_cu_aiv_mai-2022_sc_jdc.pdf
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