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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).
Chapman K.A., Gramer G., Viall S. et al. Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data Mol. Genet. Metab. Rep., 15 (2018), pp. 106-109
Saudubray J.M., Baumgartner M.R., Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment (6th ed.), Springer, Berlin, Germany (2016) 658p
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.
Nyhan WL, Fawcett N, Ando T, Rennert OM, Julius RL. Response to dietary therapy in B 12 unresponsive methylmalonic acidemia. Pediatrics. 1973 Mar;51(3):539-48
Dudley J, Allen J, Tizard J, McGraw M. Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis. Pediatr Nephrol. 1998; 12:564–6.
С.В. Михайлова, Е.Ю. Захарова, А.С. Петрухин: Нейрометаболические заболевания у детей и подростков. Диагностика и подходы к лечению. Москва, издательство «Литтерра» 2019, 34-36 с.
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.
Coman D, Huang J, McTaggart S, Sakamoto O, Ohura T, McGill J, Burke J. Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatr Nephrol. 2006; 21:270–3
Kölker S, Garcia-Cazorla A, Valayannopoulos V. et al.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6
Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis. 2008; 31:350–360. doi: 10.1007/s10545-008-0839-4.
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/
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
Methylmalonic Acidemia (https://www.newenglandconsortium.org/methyl)
Brismar J, Ozand PT. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol. 1994 Sep;15(8):1459-73
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.
Hörster F, Garbade SF, Zwickler T et al. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis 2009, 32:630–639
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
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.).
Adam MP, Mirzaa GM, Pagon RA, et al. Isolated Methylmalonic Acidemia editors. Seattle (WA): University of Washington, Seattle; 1993-2023, GeneReviews® [Internet] https://www.ncbi.nlm.nih.gov/books/NBK1231.
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.
Lubrano, R., Elli, M., Rossi, M., Travasso, E., Raggi, C., Barsotti, P., … Berloco, P. (2007). Renal transplant in methylmalonic acidemia: could it be the best option? Pediatric Nephrology, 22(8), 1209–1214.doi:10.1007/s00467-007-0460-z
UCD GUIDELINE – 1st REVISION 2018 – AWMF https://www.awmf.org/uploads/tx_szleitlinien/027-006l_S3_Diagnostik-Therapie-Harnstoffzyklusstoerungen_2018-06.pdf
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.
Jiang YZ, Zhou GP, Wu SS, Kong YY, Zhu ZJ, Sun LY. Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis. Transplant Rev (Orlando). 2021 Jan;35(1):100592
Molema F, Martinelli D, Hörster F, Kölker S, Tangeraas T, de Koning B, Dionisi-Vici C, Williams M; additional individual contributors of MetabERN. Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data. J Inherit Metab Dis. 2021 May;44(3):593-605
Oishi, K., Arnon, R., Wasserstein, M. P., & Diaz, G. A. (2016). Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management. Pediatric Transplantation, 20(6), 756–769. doi:10.1111/petr.12741
Rafique M. Emerging trends in management of propionic acidemia. Arq Bras Endocrinol Metabol. 2014 Apr;58(3):237-42.
Skovby, F., Harper, J. & Mahoney, M. 858 oral treatment of inherited vitamin b12-responsive methylmalonic acidemia (MMA). Pediatr Res 19, 253 (1985). https://doi.org/10.1203/00006450-198504000-00888
Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald First published: J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. Erratum in: J Inherit Metab Dis. 2022 Jul;45(4):862. PMID: 33595124; PMCID: PMC8252715.
Touati G, Valayannopoulos V, Mention K, de Lonlay P, Jouvet P, Depondt E, Assoun M, Souberbielle JC, Rabier D, Ogier de Baulny H, Saudubray JM. Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):288-98. doi: 10.1007/s10545-006-0351-7
«Nutrition Management of inherited Metabolic Diseases» Laurie E.Bern, Fran Rohr, Joanna R.Helm 2015 DOI 10.1007/978-3-319-14621-8
V Reid Sutton, MDSihoun Hahn, MD, PhD Elizabeth TePas, MD, MS Metabolic emergencies in suspected inborn errors of metabolism: Presentation, evaluation, and management last updated: Jun 26, 2020.https://www.uptodate.com/contents/metabolic-emergencies-in-suspected-inborn-errors-of-metabolism-presentation-evaluation-and-managemen
Peter Yorgin, MD, Robert Mak, MD, PhD Approach to the child with metabolic acidosis https://www.uptodate.com/contents/approach-to-the-child-with-metabolic-acidosis?search=patient%20education%20organic%20acidemias&source=search_result&selectedTitle=8~39&usage_type=default&display_rank=8
Chen CY, Tsai TC, Lee WJ, Chen HC. Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia. Ren Fail. 2007;29(6):751-4. doi: 10.1080/08860220701460426
Jurecki E, Ueda K, Frazier D, et al. Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. Mol Genet Metab. 2019;126(4):341-354. doi: 10.1016/j.ymgme.2019.02.007
Pinto A, Evans S, Daly A, et al. Dietary practices in methylmalonic acidaemia: a European survey. J Pediatr Endocrinol Metab. 2020;33(1):147-155. doi:10.1515/jpem-2019-0277
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; 26:100715. Published 2021 Jan 30. doi: 10.1016/j.ymgmr.2021.100715
Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatr Clin North Am. 2018;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004
Wu X, Wan D, Xie C, et al. Acute and sub-acute oral toxicological evaluations and mutagenicity of N-carbamylglutamate (NCG). Regul Toxicol Pharmacol. 2015;73(1):296-302. doi: 10.1016/j.yrtph.2015.07.009
Nashabat M, Obaid A, Al Mutairi F, et al. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. BMC Pediatr. 2019;19(1):195. Published 2019 Jun 13. doi:10.1186/s12887-019-1571-y
Forny P, Hörster F, Ballhausen D, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision [published correction appears in J Inherit Metab Dis. 2022 Jul;45(4):862]. J Inherit Metab Dis. 2021;44(3):566-592. doi:10.1002/jimd.12370
Burlina A, Cazzorla C, Zanonato E, Viggiano E, Fasan I, Polo G. Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. Mol Genet Metab Rep. 2016; 8:34-40. Published 2016 Jul 13. doi: 10.1016/j.ymgmr.2016.06.007
Tummolo A, Melpignano L, Carella A, et al. Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report. J Med Case Rep. 2018;12(1):103. Published 2018 Apr 22. doi:10.1186/s13256-018-1631-1
Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014; 9:130. Published 2014 Sep 2. doi:10.1186/s13023-014-0130-8
Sutton VR, Chapman KA, Gropman AL, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034
Jin L, Han X, He F, Zhang C. Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse. J Matern Fetal Neonatal Med. 2022;35(25):8952-8967. doi:10.1080/14767058.2021.2008351
Jiang YZ, Zhou GP, Wu SS, Kong YY, Zhu ZJ, Sun LY. Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis. Transplant Rev (Orlando). 2021;35(1):100592. doi: 10.1016/j.trre.2020.100592
Alfadhel M, Nashabat M, Saleh M, et al. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. Orphanet J Rare Dis. 2021;16(1):422. Published 2021 Oct 11. doi:10.1186/s13023-021-02032-8
Benato A, Carecchio M, Burlina A, et al. Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. J Neural Transm (Vienna). 2019;126(6):739-757. doi:10.1007/s00702-019-02010-2
Zhou X, Cui Y, Han J. Methylmalonic acidemia: Current status and research priorities. Intractable Rare Dis Res. 2018;7(2):73-78. doi:10.5582/irdr.2018.01026
Qiliang L, Wenqi S, Quan W, et al. Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. Indian Pediatr. 2015;52(2):119-124. doi:10.1007/s13312-015-0584-3
Ramos BCF, Aranda CS, Cardona RSB, Martins AM, Solé D, Clemens SAC, Clemens R. Vaccination strategies for people living with inborn errors of metabolism in Brazil. J Pediatr (Rio J). 2023 Mar-Apr;99 Suppl 1(Suppl 1):S70-S80