Молекулярно-генетическая и биохимическая характеристика изолированной метилмалоновой ацидурии у российских пациентов
https://doi.org/10.1234/XXXX-XXXX-2016-9-17-28
Аннотация
Об авторах
М. В. Куркина
Федеральное государственное бюджетное научное учреждение «Медико-генетический Научный Центр»
Россия
Россия
Г. В. Байдакова
Федеральное государственное бюджетное научное учреждение «Медико-генетический Научный Центр»
Россия
Россия
Е. Ю. Захарова
Федеральное государственное бюджетное научное учреждение «Медико-генетический Научный Центр»
Россия
Россия
Список литературы
1. Mello DM, da Silva V, Rosas F. Serum biochemical analytes in captive Amazonian manatees (Trichechus inunguis). Vet Clin Pathol. 2011; 40 (1): 74-77.
2. Tanpaiboon P. Methylmalonic academia. Mol Genet Metab. 2005; 85 (1): 2-6.
3. Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. Seattle (WA): University of Washington, Seattle: GeneReviews®[Internet]. 1993-2016.
4. Hung-Chun Yu, Jennifer L. Sloan, Gunter Scharer, et al. An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1. The American Journal of Human Genetics. 2013; 93: 506-514.
5. Baumgartner MR, Hоrster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic academia. Orphanet J Rare Dis. 2014; 2: 9-130.
6. Coulombe JT, Shih VE, Levy HL. Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria. Pediatrics. 1981; 67 (1): 26-31.
7. Deodato F1, Boenzi S, Santorelli FM et al. Methylmalonic and propionic aciduria. Am J Med Genet. 2008; 142 (С2): 104-112.
8. Coelho D, Suormala T, Stucki M, Lerner-Ellis J at al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008; 358: 1454-1464.
9. Coelho D, Kim JC, Miousse IR et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012; 44: 1152-1155.
10. Николаева ЕА, Боровик ТЭ, Бушуева ТВ и др. Федеральные клинические рекомендации по диагностике и лечению метилмалоновой ацидемии. Москва: Министерство здравоохранения. 2013; 23 с.
11. Левиашвили ЖГ, Савенкова НД, Смирнова ММ и др. Метилмалоновая ацидемия у сибсов. Нефрология. 2013; 17 (3): 93-98.
12. Полякова СИ, Рославцева ЕА, Тепаев РФ и др. Протокол лечения острого метаболитического криза при метилмалоновой ацидемии. Педиатрическая фармокология. 2014; 11 (4): 116-119.
13. Байдакова Г.В. Алгоритмы дифференциальной диагностики наследственных болезней обмена веществ, сопровождающихся нарушениями метаболизма аминокислот и ацилкарнитинов: Автореф. дисс. на соискание ученой степени к.б.н. Москва. 2012;24 с.
14. Lefevere MF, Verhaeghe BJ, Declerck DH et al. Metabolic Profiling of Urinary Organic Acids by Single and Multicolumn Capillary Gas Chromatography. Journal of Chromatographic Science. 1989; 27 (1): 23-29.
15. Froese DS, Kochan G, Muniz JR et al. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight intotheir complex formation. J Biol Chem. 2010; 285: 38204-13.
16. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis. 2008; 31: 350-360.
17. Hоrster 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 (6): 762-763.
18. Chace DH, DiPerna JC, Kalas TA et al. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass-spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem. 2001; 47 (11): 2040-44.
19. Marble M, Copeland S, Khanfar N et al. Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening. J Pediatr. 2008; 152 (5): 731-733.
20. Grange DK, Finlay JL. Nutritional vitamin B12 deficiency in a breastfed infant following maternal gastric bypass. Pediatr Hematol Oncol. 1994; 11 (3): 311-318
21. Celiker MY, Chawla A. Congenital B12 deficiency following maternal gastric bypass. J Perinatol. 2009; 29 (9): 640-642
22. Kruszka PS, Manoli I, Sloan JL et al. Renal growth in isolated methylmalonic acidemia. Genet Med. 2013; 15 (12): 990-996.
23. Ledley FD, Levy HL, Shih VE et al. Benign methylmalonic aciduria. N Engl J Med. 1984; 311 (16): 1015-18.
24. Sniderman LC, Lambert M, Giguеre R et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr. 1999; 134 (6): 675-680.
25. Sloan JL, Johnston JJ, Manoli I et al. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011; 43 (9): 883-886
26. Dobson CM, Wai T, Leclerc D et al. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet. 2002; 11 (26): 3361-69.
27. Lerner-Ellis JP, Dobson CM, Wai T et al. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat. 2004; 24 (6): 509-516.
28. Liu MY1, Liu TT, Yang YL et al. Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. JIMD Rep. 2012; 6: 55-64.
29. Froese DS, Kochan G, Muniz JR et al. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J Biol Chem. 2010; 85 (49): 38204-13.
30. Forny P, Froese DS, Suormala T et al. Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. Hum Mutat. 2014; 35 (12): 1449-58.
31. Ledley FD, Rosenblatt DS. Mutations in methylmalonic acidemia: clinical and enzymatic correlations. Hum Mutat. 1997; 9 (1): 1-6.
32. Worgan LC, Niles K, Tirone JC et al. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat. 2006; 27 (1): 31-43.
33. Lempp TJ, Suormala T, Siegenthaler R et al. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. Mol Genet Metab. 2007; 90 (3): 284-90.
34. Horster F, Baumgartner MR, Viardot C et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007; 62 (2): 225-30.
35. Acquaviva C, Benoist JF, Pereira S et al. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut0 and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat. 2005; 25 (2): 167-176.
36. Merinero B, Perez B, Perez-Cerda C et al. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis. 2008; 31 (1): 55-66.
37. Janata J, Kogekar N, Fenton WA. Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. Hum Mol Genet. 1997; 6 (9): 1457-64.
38. Jeremy P.Cheadle, Elena Belloni, Maurizio Ferrari et al. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics. 1994; 3 (8): 1431-1432.
39. Смирнов АМ, Зайцева МА, Павлов АЕ. Перспективы применения метода NGS в клинической практике скрининга новорожденных. Журнал «Российский вестник перинатологии и педиатрии». 2013;58 (2): 12-17.
Рецензия
Для цитирования:
Куркина М.В., Байдакова Г.В., Захарова Е.Ю. Молекулярно-генетическая и биохимическая характеристика изолированной метилмалоновой ацидурии у российских пациентов. Медицинская генетика. 2016;15(9):17-28. https://doi.org/10.1234/XXXX-XXXX-2016-9-17-28
For citation:
Kurkina M.V., Baydakova G.V., Zakharova E.Y. Molecular and biochemical characteristics of the isolated methylmalonic aciduria in Russian patients. Medical Genetics. 2016;15(9):17-28. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-9-17-28
Просмотров: 736
Послать статью по эл. почте 