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Список литературы

  1. Baumgartner, M.R., Hörster, F., Dionisi-Vici, C. et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 9, 130 (2014). https://doi.org/10.1186/s13023-014-0130-8
  2. ChapmanK.A., Gramer G., Viall S. et al.Incidenceofmaplesyrupurinedisease, propionicacidemia, andmethylmalonicaciduriafromnewbornscreeningdataMol. Genet. Metab. Rep., 15 (2018), pp. 106-109
  3. Saudubray J.M., Baumgartner M.R., WalterJ. Inborn Metabolic Diseases: Diagnosis and Treatment (6th ed.), Springer, Berlin, Germany (2016) 658p
  4. Баранов А.А., Намазова-Баранова Л.С., Боровик Т.Э., Ладодо К.С., Бушуева Т.В., Маслова О.И., Кузенкова Л.М., Журкова Н.В., Звонкова Н.Г. и др.  Диетотерапия при наследственных болезнях аминокислотного обмена Методическое письмо. Москва. 2013. 97 с.
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  8. Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. 2012 May 17 [updated 2016 Oct 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 22593918.
  9. Chapman K.A., Gropman A., MacLeod E. et al.  Acute management of propionic acidemia. Mol Genet Metab 2012, 105:16–25.
  10. Matthias R.Baumgartner, Hörster F., Carlo Dionisi-Vici et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic academia Baumgartner et al. Orphanet Journal of Rare Diseases 2014, 9:130.
  11. Çaltik Yilmaz A, Kiliç M, Büyükkaragöz B. et al. Urolithiasis in an infant with propionic acidemia: answer. Pediatr Nephrol. 2015 Jan;30(1):77-8
  12. EAU Guidelines. Edn. presented at the EAU Annual Congress Amsterdam 2020. ISBN 978-94-92671-07-3. EAU Guidelines Office, Arnhem, The Netherlands. http://uroweb.org/guidelines/compilations-of-all-guidelines/
  13. Haijes HA, Jans JJM, Tas SY. Et al. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. J Inherit Metab Dis. 2019 Sep;42(5):730-744
  14. Dweikat IM, Naser EN, Abu Libdeh AI OJN, et al. Propionic acidemia mimicking diabetic ketoacidosis. Brain Dev 2011, 33:428–431.
  15. Haberlandt E, Canestrini C, Brunner-Krainz M, Moslinger D, Mussner K, Plecko B, Scholl-Burgi S, Sperl W, Rostasy K, Karall D: Epilepsy in patients with propionic acidemia. Neuropediatrics 2009, 40:120–125.
  16. Picca S, Bartuli A, Dionisi-Vici C: Medical management and dialysis therapy for the infant with an inborn error of metabolism. Semin Nephrol 2008, 28:477–480. Chapman KA, Summar ML: Propionic acidemia consensus conference summary. Mol Genet Metab 2012, 105:3–4.
  17. Jurecki E., Ueda K., Frazier D. et al. Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. Mol Genet Metab. 2019 Apr;126(4):341-354
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  19. MP 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.).
  20. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W: Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila) 2004, 43:837–843.
  21. 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.
  22. Orphanet Journal of Rare Diseases https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0130-8/tables/7
  23. UCD GUIDELINE – 1st REVISION 2018 – AWMF https://www.awmf.org/uploads/tx_szleitlinien/027-006l_S3_Diagnostik-Therapie-Harnstoffzyklusstoerungen_2018-06.pdf
  24. Arbeiter AK, Kranz B, Wingen AM. et al.Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. Nephrol Dial Transplant 2010, 25:1257–1265.
  25. Feillet F, Bodamer OA, Dixon MA, Sequeira S, Leonard JV. Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000 May;136(5):659-63
  26. OrkinSH, TroutAT, FeiL, LinTK, NathanJD, ThompsonT, VitaleDS, Abu-El-HaijaM. SensitivityofBiochemicalandImagingFindingsfortheDiagnosisofAcutePancreatitisinChildren. J Pediatr. 2019 Oct;213:143-148.e2
  27. ChoeJY, JangKM, MinSY, HwangSK, KangB, ChoeBH. Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child. J Korean Med Sci. 2019;34(47):e303. Published 2019 Dec 9. doi:10.3346/jkms.2019.34.e303
  28. KhuranaV, GangulyI. Recurrentacutepancreatitis. JOP. 2014 Sep 28;15(5):413-26. doi: 10.6092/1590-8577/2417. PMID: 25262707
  29. Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012;105:10–15
  30. Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. J Inherit Metab Dis. 2019 Sep;42(5):745-761
  31. Matern D, Seydewitz HH, Lehnert W, Niederhoff H, Leititis JU, Brandis M. Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr. 1996 Nov;129(5):758-60
  32. Mayatepek E, Schulze A. Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiency. J Inherit Metab Dis. 1999 Apr;22(2):189-90
  33. Felicia J Gliksman, DO, MPH; Chief Editor: Helmi L Lutsep, MD Propionic Acidemia https://emedicine.medscape.com/article/1161910-overview
  34. V. Reid Sutton, Kimberly A. Chapman, Andrea L. Gropman et al. Chronic management and health supervision of individuals with propionic acidemia,Molecular Genetics and Metabolism,Volume 105, Issue 1,2012,Pages 26-33,ISSN 1096-7192,https://doi.org/10.1016/j.ymgme.2011.08.034.
  35. Haijes, H.A., Jans, J.J.M., van der Ham, M. et al. Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach. Orphanet J Rare Dis 15, 68 (2020). https://doi.org/10.1186/s13023-020-1347-3
  36. Rafique M. Emerging trends in management of propionic acidemia. Arq Bras Endocrinol Metabol. 2014 Apr;58(3):237-42.
  37. Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb;33(2):142-146
  38. Touati, G., Valayannopoulos, V., Mention, K., et al. (2006). Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture. Journal of Inherited Metabolic Disease, 29(2-3), 288–298. doi:10.1007/s10545-006-0351-7

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