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Нарушения цикла образования мочевины
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Краснопольская КД Наследственные болезни обмена веществ. Справочное пособие для врачей. /М., 2005. С. 43-51.
Михайлова СВ, Захарова ЕЮ, Петрухин АС. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению (2-е изд., переработанное и дополненное) / М.: Литтерра,2017. С.233-251
Bachmann C (2003a) Inherited hyperammonemias. In: Blau N, Duran M, Blaskovic ME, Gibson KM (eds) Physician's guide to the laboratory diagnosis of metabolic diseases. Springer, Berlin, pp 261-276
Häberle et al. Suggested guidelines for the diagnosis and management of urea cycle disordersOrphanet Journal of Rare Diseases 2012, 7:32
Adam S, Almeida MF, Assoun M, et al (2013) Dietary management of urea cycle disorders: European practice. Mol Genet Metab 110: 439-45.
Marshall L. Summara,*, Stefan Koelkerb, et al;, The European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD)e, and The Members of the Urea Cycle Disorders Consortium (UCDC) The incidence of urea cycle disorders Mol Genet Metab. 2013; 110(0): 179-180. doi:10.1016
Haberli et al; UCD guideline 1
st
revision, 2018
Fecarotta S, Parenti G, Vajro P, et al; (2006) HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. J Inherit Metab Dis 29: 186-9
Diaz GA, Krivitzky LS, Mokhtarani M, et al (2013) Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology 57: 2171-9.
Gropman A (2010) Brain imaging in urea cycle disorders. Mol Genet Metab 100 Suppl 1: S20-30.
Gropman AL, Gertz B, Shattuck K, Kahn IL, Seltzer R, Krivitsky L, Van Meter J (2010) Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol 31: 1719-23
Gunz AC, Choong K, Potter M, Miller E (2013) Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects. Int Med Case Rep J 6: 41-8.
Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R (2010) First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period. Eur J Obstet Gynecol Reprod Biol 149: 228-9.
Jamiolkowski D, Kolker S, Glahn EM, Baric I, Zeman J, Baumgartner MR, Muhlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P, consortium EI (2016) Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis 39: 231-41.
Serrano M, Perez-Duenas B, Gomez-Lopez L, Murgui E, Fons C, Garcıa-Cazorla A, Artuch R, Jara F, Arranz J, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca M (2010) Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol: 25(3):352-8.
Brassier A, Gobin S, Arnoux JB, et al (2015) Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. Orphanet J Rare Dis 10: 58.
Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ (2014) Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr 164: 720-725
Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J (2016) Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS One 11: e0153358.
Ficicioglu C, Mandell R, Shih VE (2009) Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab 98: 273-7.
Huemer M, Carvalho DR, Brum JM, et al (2016) Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. J Inherit Metab Dis 39: 331-40.
Zhang Y, Landau YE, Miller DT, Marsden D, Berry GT, Kellogg MD (2012) Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. Clin Biochem 45: 1583-6.
Unsinn C, Das A, Valayannopoulos V, Thimm E, et al (2016) Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet J Rare Dis 11: 116.
Van Leynseele A, Jansen A, Goyens P, Martens G, Peeters S, Jonckheere A, De Meirleir L (2014) Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome. Eur J Pediatr 173: 1635-8.
Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE (2012) Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta 413: 1151-5
Martinelli D, Diodato D, Ponzi E, Monne M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C (2015) The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis 10: 29.
Susanne Nettesheim1†, Stefan Kölker1†, Daniela Karall2, Johannes Häberle3, Roland Posset1, Georg F. Hoffmann1, Beate Heinrich4, Florian Gleich1, Sven F. Garbade1 Incidence, disease onset and short-term outcome in urea cycle disorders -crossborder surveillance in Germany, Austria and Switzerland Orphanet Journal of Rare Diseases (2017) 12:111.
Nakamura K, Kido J, Mitsubuchi H, Endo F (2014) Diagnosis and treatment of urea cycle disorder in Japan. Pediatr Int 56: 506-9.
Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ (2012) Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol 42: 455-62.
Braissant O (2010) Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab 100 Suppl 1: S3-S12
Kölker S, Dobbelaere D, Häberle J, et al;Consortium EI (2015) Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep 22: 29-38
Leonard JV, Morris AA (2006) Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta Paediatr 95: 6-14.
Burgard P, Kölker S, Haege G, Lindner M, Hoffmann GF (2016) Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years. J Inherit Metab Dis 39: 219-29.
Posset R, Garcia-Cazorla A, Valayannopoulos V, et al Additional individual contributors of the EIMDc (2016) Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis 39: 661-72.
Summar ML, Dobbelaere D, Brusilow S, Lee B (2008) Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 97: 1420-5.
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW (2005) Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 21: S1-8
Adam S, Champion H, Daly A, et al, British Inherited Metabolic Diseases Group Dietitian's G (2012) Dietary management of urea cycle disorders: UK practice. J Hum Nutr Diet 25: 398-404.
Boneh A (2014) Dietary protein in urea cycle defects: How much? Which? How? Mol Genet Metab 113: 109-12.
Fulgoni VL, 3rd (2008) Current protein intake in America: analysis of the National Health and Nutrition Examination Survey, 2003-2004. Am J Clin Nutr 87: 1554S-1557S
Adam S, Almeida MF, Assoun M, et al (2013) Dietary management of urea cycle disorders: European practice. Mol Genet Metab 110: 439-45.
Fabre A, Baumstarck K, Cano A, et al; (2013) Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health Qual Life Outcomes 11: 158.
Marini JC, Lanpher BC, Scaglia F, et al;(2011) Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr 93: 1248-54
WHO Technical Report Series (2007) Protein and amino acid requirement in human nutrition. Report of a joint WHO/FAO/UNU expert consultation. World Health Organization, Geneva, pp Series no. 935
Lamb S, Aye CY, Murphy E, Mackillop L (2013) Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications. BMJ Case Rep 2013.
Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B (2014) Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab
Burrage LC, Jain M, Gandolfo L, Lee BH, Members of the Urea Cycle Disorders C, Nagamani SC (2014) Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab 113: 131-5.
Lichter-Konecki U, Diaz GA, Merritt JL, et al;(2011) Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. Mol Genet Metab 103: 323-9.
Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B (2013) Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr 162: 1228-34, 1234 e1.
Hiroma T, Nakamura T, Tamura M, Kaneko T, Komiyama A (2002) Continuous venovenous hemodiafiltration in neonatal onset hyperammonemia. Am J Perinatol 19: 221-4.
Spinale JM, Laskin BL, Sondheimer N, Swartz SJ, Goldstein SL (2013) High-dose continuous renal replacement therapy for neonatal hyperammonemia. Pediatr Nephrol 28: 983-6.
Tsai IJ, Hwu WL, Huang SC, Lee NC, Wu ET, Chien YH, Tsau YK (2014) Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism. Pediatr Nephrol 29: 111-6.
Hediger N, Landolt MA, Diez-Fernandez C, Huemer M, Häberle J (2018) The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders Journal of Inherited Metabolic Disease, 2018.
Campeau PM, Pivalizza PJ, Miller G, McBride K, Karpen S, Goss J, Lee BH (2010) Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab 100 Suppl 1: S84-7.
Kasahara M, Sakamoto S, Horikawa R, et al; (2014) Living donor liver transplantation for pediatric patients with metabolic disorders: the Japanese multicenter registry. Pediatr Transplant 18: 6-15.
Leonard JV, McKiernan PJ (2004) The role of liver transplantation in urea cycle disorders. Mol Genet Metab 81 Suppl 1: S74-8.
McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B (2004) Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. Pediatrics 114: e523-6.
Midgley DE, Bradlee TA, Donohoe C, Kent KP, Alonso EM (2000) Health-related quality of life in long-term survivors of pediatric liver transplantation. Liver Transpl 6: 333-9.
Newnham T, Hardikar W, Allen K, Wellard RM, Hamilton C, Angus P, Jones R, Boneh A (2008) Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. Liver Transpl 14: 41-5.
Stevenson T, Millan MT, Wayman K, et al;(2009) Long-term outcome following pediatric liver transplantation for metabolic disorders. Pediatr Transplant.
Teufel U, Weitz J, Flechtenmacher C, Prietsch V, Schmidt J, Hoffmann GF, Kölker S, Engelmann G (2011) High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure. Pediatr Transplant 15: E110-5.
Wakiya T, Sanada Y, Mizuta K, Umehara M, Urahasi T, Egami S, Hishikawa S, Fujiwara T, Sakuma Y, Hyodo M, Murayama K, Hakamada K, Yasuda Y, Kawarasaki H (2011) Living donor liver transplantation for ornithine transcarbamylase deficiency. Pediatr Transplant 15: 390-5.
Bates TR, Lewis BD, Burnett JR, et al;(2011) Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation. Liver Transpl 17: 1481-4.
Batshaw ML, Tuchman M, Summar M, Seminara J, Members of the Urea Cycle Disorders C (2014) A longitudinal study of urea cycle disorders. Mol Genet Metab 113: 127-30.
Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MA, de Koning TJ (2014) Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet J Rare Dis 9: 177.
Hatzmann J, Valstar MJ, Bosch AM, et al;(2009) Predicting health-related quality of life of parents of children with inherited metabolic diseases. Acta Paediatr 98: 1205-10.
Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C (2012) Creatine metabolism in urea cycle defects. J Inherit Metab Dis 35: 647-53.
De Bie I, Lemyre E, Lambert M (2011) Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency. JIMD Rep 1: 83-8.
Pearson DL, Dawling S, Walsh WF, Haines JL, Christman BW, Bazyk A, Scott N, Summar ML. Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N Engl J Med. 2001;344:1832-8.
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;38:1041-57
Александрович Ю.С., Пшениснов К.В. , Фелькер Е.Ю., Абрамова Н.Н., Габрусская Т.В.Нарушения цикла синтеза мочевины как причина острой церебральной недостаточности у детей: случай из практики. Вестник интенсивной терапии. 2017;1:74-80. DOI: 10.21320/1818-474X-2017-1-74-80
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
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Список сокращений
Нарушения цикла образования мочевины
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Список литературы
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Состав рабочей группы по разработке методических рекомендаций
Целевая аудитория данных методических рекомендаций
Приложение А1. Справочные материалы, включая соответствие показаний к применению и противопоказаний, способов применения и доз лекарственных препаратов, инструкции по применению лекарственного препарата
Приложение Б. Алгоритмы ведения пациента
Приложение В. Информация для пациентов
Приложение Г1. Орнитиновый цикл, цикл мочевины
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Данный блок поддерживает скрол*