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Глутаровая ацидурия тип 1

Список литературы

  1. Михайлова С. В., Захарова Е. Ю., Петрухин А. С. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению / - 2-е изд., перераб. и доп. - М. : Литтерра, 2017. - 368 с. - (Серия "Практические руководства"). - ISBN 978-5- 4235-0254-6.
  2. Михайлова С. В., Захарова Е. Ю., Бобылова М. Ю., и др. Глутаровая ацидурия тип 1: клиника, диагностика и лечение. Журнал неврологии и психиатрии им.С.С.Корсакова. 2007-N 10.-С.4-12
  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.).
  4. Baric I., Wagner P., Feyh P. et al. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. //J. Inher. Metab. Dis. ― 1999. ―V. 22. ― P. 867- 882
  5. Biery B.J., Stein D.E., Morton D.H. et al. Gene Structure and Mutations of Glutaryl- Coenzyme A. Dehydrogenase: Impaired Association of Enzyme Subunits That is Due to an A421V Substitution Causes Glutaric Acidemia Type I in the Amish. // Am. J. Hum. Genet. ― 1996. ―V. 59. ― P. 1006-1011.
  6. Bjugstad K.B., Goodman S.I., Freed C.R. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type I. //J. Pediatr. ― 2000. ― V.137. ―P. 681-686.
  7. Boy N., Mühlhausen C., Maier E.M. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2016 Nov 16. [Epub ahead of print]
  8. Brismar J., and Ozand P.T. CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients. // AJNR Am. J. Neuroradiol. ―1995. — V.16. ― P.675-683.
  9. Caffey J. The whiplash shaken infant syndrome: manual shaking by the extremities with whiplash-induced intracranial and intraocular bleedings, linked with residual permanent brain damage and mental retardation. //Pediatrics. ― 1974. ― V.54. ― P. 396-403.
  10. Chalmers R.A., Bain M.D., Zschocke J. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. //Mol. Genet. Metab. ―2006. ― V.88. ― P.29-37.
  11. Chow C.W., Haan E.A., Goodman S.I. et al. Neuropathology in glutaric acidaemia type 1. // Acta. Neuropathol. ― 1988. ― V.76. ― P.590-594.
  12. Corral I., Martinez C.J.C., Martinez-Pardo M. et al. Glutaric aciduria type 1: diagnosis in adulthood and phenotypic variability. //Neurologia. ―2001. ―V.16. ― P.377-380.
  13. Desai N.K., Runge V.M., Crisp D.E. Magnetic resonance imaging of the brain in glutaric acidemia type I: a review of the literature and a report of four new cases with attention to the basal ganglia and imaging technique. //Invest. Radiol. ― 2003. ―V.38. ― P.489-496.
  14. Forstner R., Hoffman G.F., Gassner I. et al. Glutaric aciduria type 1: ultrasonographic demonstrations of early signs. //Pediatr. Radiol. ― 1999. ―V.29. ―P.138-143.
  15. Funk C.B., Prasad A.N., Frosk P. et al. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. //Brain. ― 2005. ―V.128. ― P.711-722.
  16. Goodman S.I. Prenatal diagnosis of glutaric acidemias. // Prenat. Diagn. ― 2001. ―V. 21. — P. 1167-1168.
  17. Hoffmann G.F., Athanassopoulos S., Burlina A.B., et al. Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency. // Neuropediatr. ― 1996. ―V. 27. ―P. 115-123.
  18. Hoffmann G.F., Zschocke J. Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy. //J. Inher. Metab. Dis. ―1999. ―V. 22. ―P. 381-
  19. Phyllis B. Acosta Nutrition Management of Patient with Inherited Metabolic Disorders- Jones and Bartlett Publishers- 2010 p.476.
  20. S. Kolker,E. Christensen,J.V. Leonard et al. Guideline for the diagnosis and management of glutaryl-CoAdehydrogenase deficiency (glutaric aciduria type I) J. Inher. Metab. Dis. - 2007- 30:5–22
  21. Kölker, S., Christensen, E., Leonard, J.V. et al. Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inherit Metab Dis 2011.vol 34 No.3:677-694. https://doi.org/10.1007/s10545-011-9289-5
  22. World Health Organization (1985): Energy and protein requirements. Report of a Joint FAO/WHO/UNU Expert Consultation (1985). WHO Tech Rep Ser No 724, Geneva.
  23. 25. Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, Pai JS, Chu TH, Yang CF, Hsu TR, Lai CJ, Tsai MT, Ho PH, Lin MC, Cheng LY, Chuang YC, Niu DM. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc. 2017;80:253–61.
  24. Online Mendelian Inheritance in Man/ An Onlaine Catalog of Human Genes and Genetic Disorders Update 23 November 2016 - www.omim.org.
  25. Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, et al. Newborn screening: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol. 2018;83:970–979.
  26. Boy N., Mengler K., Heringer-Seifert J. et al. Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. Genet Med 23, 13–21 (2021). https://doi.org/10.1038/s41436-020-00971-4
  27. Gerards M, Sallevelt SC, Smeets HJ. Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options. Mol Genet Metab. 2016;117:300–12.
  28. Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. JInheritMetabDis. 2017b;40:75–101.
  29. Vester ME, Visser G, Wijburg F, van Spronsen FJ, Williams M, van Rijn RR. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. Eur J Pediatr. 2016;175:1001–6.
  30. Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I. Patterns, evolution, and severity of striatal injury in insidious-vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis. 2019;42:117–27.
  31. Kurkina, M.V., Mihaylova, S.V., Baydakova, G.V. et al. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. MetabBrainDis 35, 1009–1016 (2020). https://doi.org/10.1007/s11011- 020-00554-x
  32. MortonDH, BennettMJ, SeargeantLE, NichterCA, KelleyRI. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet. 1991;41:89–95
  33. BasingerAA, BookerJK, FrazierDM, KoeberlDD, SullivanJA, MuenzerJ. Glutaricacidemiatype 1 inpatientsofLumbeeheritagefromNorthCarolina. MolGenetMetab. 2006;88:90–92.
  34. Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015a;38:1041–57
  35. Fujimoto S, Shibata I, Sugiyama N, Ohba S, Togari H, Wada Y. Unique electroencephalographic change of acute encephalopathy in glutaric aciduria type 1. Tohoku J Exp Med. 2000 May;191(1):31-8. doi: 10.1620/tjem.191.31. PMID: 10896037.
  36. Monavari AA, Naughten ER. Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Child. 2000 Jan;82(1):67-70. doi: 10.1136/adc.82.1.67. PMID: 10630918; PMCID: PMC1718171.:
  37. du Moulin M, Thies B, Blohm M, Oh J, Kemper MJ, Santer R, Mühlhausen C. Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms. JIMD Rep. 2018;39:25-30. doi: 10.1007/8904_2017_44. Epub 2017 Jul 12. PMID: 28699143; PMCID: PMC5953902.
  38. Kafil-Hussain NA, Monavari A, Bowell R, Thornton P, Naughten E, O'Keefe M. Ocular findings in glutaric aciduria type 1. J PediatrOphthalmol Strabismus. 2000 Sep- Oct;37(5):289-93. PMID: 11020111
  39. Imerci A, Strauss KA, Oleas-Santillan GF, Miller F. Orthopaedic manifestations of glutaric acidemia Type 1. J ChildOrthop. 2020 Oct 1;14(5):473-479.
  40. Kevin A. Strauss, Katie B. Williams, Vincent J. Carson, Laura Poskitt, Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades, Molecular Genetics and Metabolism,Volume 131, Issue 3, 2020, Pages 325-340, ISSN 1096-7192, https://doi.org/10.1016/j.ymgme.2020.09.007.
  41. Fernández-Alvarez E, Nardocci N. Update on pediatric dystonias: etiology, epidemiology, and management. Degener Neurol Neuromuscul Dis. 2012;2:29-41. Published 2012 Apr 11. doi:10.2147/DNND.S16082
  42. McClelland, V.M.; Bakalinova, D.B.; Hendriksz, C.; Singh, R.P. Glutaric aciduria type 1 presenting with epilepsy. Dev. Med. Child Neurol. 2009, 51, 235–239. [Google Scholar] [CrossRef] [PubMed]
  43. Jovic, N.J.; Kosac, A.; Koprivsek, K. L-2-hydroxyglutaric aciduria: A case report. SrpskiArhiv za CelokupnoLekarstvo 2014, 142, 337–341. [Google Scholar] [CrossRef] [PubMed][Green Version]
  44. Periasamy, V.; Rudwan, M.; Yadav, G.; Khan, R.A. Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: A case report. Med. Princ. Pract. Int. J. Kuwait Univ. Health Sci. Cent. 2008, 17, 258–261. [Google Scholar] [CrossRef] [PubMed]
  45. Mete, A.; Isikay, S.; Sirikci, A.; Ozkur, A.; Bayram, M. Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: Findings of magnetic resonance imaging. Pediatr. Neurol. 2012, 46, 195–197. [Google Scholar] [CrossRef] [PubMed]
  46. Seijo-Martinez, M.; Navarro, C.; Castro del Rio, M.; Vila, O.; Puig, M.; Ribes, A.; Butron, M. L-2-hydroxyglutaric aciduria: Clinical, neuroimaging, and neuropathological findings. Arch. Neurol. 2005, 62, 666–670. [Google Scholar] [CrossRef] [PubMed]
  47. Calik, M.; Tuncer, F.N.; Sarikaya, S.; Karakas, O.; Cece, H.; Iscan, A. A case of l-2 hydroxyglutaric aciduria presenting as febrile seizure. Genet. Couns. 2014, 25, 363–367. [Google Scholar] [PubMed]
  48. Leema P Cornelius, Vivekasaravanan Raju, Asir Julin Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management Annals of Indian academy of neurology 2021 Vol. 24 Issue: 1 P.: 22-26
  49. Iona Novak, Catherine Morgan, Michael Fahey, Megan Finch-Edmondson, Claire Galea, Ashleigh Hines, , State of the Evidence Traffic Lights 2019: Systematic Review of Interventions for Preventing and Treating Children with Cerebral Palsy. Current Neurology and Neuroscience Reports (2020) 20: 3 https://doi.org/10.1007/s11910-020-1022-z
  50. Larson A, Goodman S. Glutaric Acidemia Type 1. 2019 Sep 19. 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/NBK546575/
  51. Kölker et al. J Inherit Metab Dis 30: 5-22, 2007b; J Inherit Metab Dis 34: 677-694, 2011, Boy, N., Mühlhausen, C., Maier, E.M., Heringer, J., Assmann, B., Burgard, P., Dixon, M., Fleissner, S., Greenberg, C.R., Harting, I., Hoffmann, G.F., Karall, D., Koeller, D.M., Krawinkel, M.B., Okun, J.G., Opladen, T., Posset, R., Sahm, K., Zschocke, J., Kölker, S. and (2017), Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis, 40: 75-101. https://doi.org/10.1007/s10545-016-9999-9,
  52. Landmann E, Kreuder J, Gortner L, Neugebauer M, Reiter A, Blütters-Sawatzki R. Effloreszenzen und Blutbildveränderungenbeieinem 9 MonatealtenSäuglingmitGlutarazidurieTyp I [Cutaneous lesions and blood count changes in a 9-month old girl with glutaric aciduria type I]. KlinPadiatr. 2001 Mar-Apr;213(2):74- 5. German. doi: 10.1055/s-2001-12880. PMID: 11305196.
  53. Hakim M., Martin D., Beebe A., KlamarJ., Tobias J. Perioperative Management of a Patient With Glutaric Aciduria. Journal of Medical Cases, North America, 6, may. 2015. Available at: <https://www.journalmc.org/index.php/JMC/article/view/2096/1539>. Dateaccessed: 05 Apr. 2021.
  54. Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet Part C Semin Med Genet 2006. 142C:86–94
  55. Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis. 2007 Feb;30(1):5-22. doi: 10.1007/s10545-006-0451-4. Epub 2007 Jan 3. PMID: 17203377.
  56. Emergency Protocol Glutaric Aciduria Type 1. 2019 FamiliasGA association(https://familiasga.com/wp-content/uploads/2020/05/GLUTARIC- ACIDURIA-TYPE-1-EMERGENCY-PROTOCOL-EN.pdf)
  57. StraussK.A., PuffenbergerE.G., Robinson D.L. and MortonD.H. (2003), Type I glutaric aciduria, part 1: Natural history of 77 patients. Am. J. Med. Genet., 121C: 38- 52. https://doi.org/10.1002/ajmg.c.20007
  58. Mehta N, Kaur G. Anesthetic Management for Fracture Head of Radius in a Child with Glutaric Aciduria type-1. Anesth Essays Res. 2018 Apr-Jun;12(2):601-603. doi: 10.4103/aer.AER_34_18. PMID: 29962642; PMCID: PMC6020594.
  59. Luc QN, Querubin J. Clinical Management of Dystonia in Childhood. Paediatr Drugs. 2017 Oct;19(5):447-461
  60. Sanger TD, Bastian A, Brunstrom J, Damiano D, Delgado M, Dure L, Gaebler-Spira D, Hoon A, Mink JW, Sherman-Levine S, Welty LJ; Child Motor Study Group. Prospective open-label clinical trial of trihexyphenidyl in children with secondary dystonia due to cerebral palsy. J Child Neurol. 2007 May;22(5):530-7
  61. Rice J, Waugh M-C. Pilot study on trihexyphenidyl in the treatment of dystonia in children with cerebral palsy. J. Child Neurol. 2009;24:176–82
  62. Lang AE. High dose anticholinergic therapy in adult dystonia. Can J Neurol Sci. 1986 Feb;13(1):42-6
  63. Bohn E, Goren K, Switzer L, Falck-Ytter Y, Fehlings D. Pharmacological and neurosurgical interventions for individuals with cerebral palsy and dystonia: a systematic review update and meta-analysis. Dev Med Child Neurol. 2021 Mar 27

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