Справка
x
Поиск
Закладки
Озвучить книгу
Изменить режим чтения
Изменить размер шрифта
Оглавление
Для озвучивания и цитирования книги перейдите в режим постраничного просмотра.
Недостаточность 3-метилкротонил-КоА карбоксилазы (3-метилкротонилглицинурия, метилкротонил КоА карбоксилазная недостаточность)
Список литературы
Поставить закладку
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. The Journal of clinical investigation. 2001 Feb 15;107(4):495-504.
Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. The American Journal of Human Genetics. 2001 Feb 1;68(2):334-46.
Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE. β-Hydroxyisovaleric aciduria and β-methylcrotonylglycinuria: a new inborn error of metabolism. The Lancet. 1970 Sep 5;296(7671):521-2.
Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Human molecular genetics. 2001 Jun 1;10(12):1299-306.
Chu, C.H. and D. Cheng, Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC). Protein Expr Purif, 2007. 53(2): p. 421-7.
Grünert SC, Stucki M, Morscher RJ, et al. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis. 2012;7:31. Published 2012 May 29. doi:10.1186/1750-1172-7-31.
Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. Gene. 2016 Dec 15;594(2):203-10.
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E. Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Human mutation. 2006 Aug;27(8):748-59.
Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR. 3‐Methylcrotonyl‐CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Human mutation. 2005 Aug;26(2):164-.
Kim YM, Seo GH, Kim GH, Yoo HW, Lee BH. Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency. Journal of Genetic Medicine. 2017;14(1):23-6.
Wolfe LA, Finegold DN, Vockley J, Walters N, Chambaz C, Suormala T, Koch HG, Matern D, Barshop BA, Cropcho LJ, Baumgartner MR. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics. 2007 Nov;120(5):e1335-40.
Baumgartner MR, Dantas MF, Suormala T, et al. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet. 2004;75(5):790-800. doi:10.1086/425181.
Shepard PJ, Barshop BA, Baumgartner MR, Hansen JB, Jepsen K, Smith EN, Frazer KA. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genetics in medicine. 2015 Aug 1;17(8):660-7.
Schiff M, Brassier A, Dionisi-Vici C. Branched-Chain Organic Acidurias Branched-chain Organic Acidurias/Acidaemias. InInborn Metabolic Diseases: Diagnosis and Treatment 2022 Jun 25 (pp. 369-389). Berlin, Heidelberg: Springer Berlin Heidelberg.
Savic D, Hodson L, Neubauer S, Pavlides M. The importance of the fatty acid transporter L-carnitine in non-alcoholic fatty liver disease (NAFLD). Nutrients. 2020 Jul 22;12(8):2178.
Thomsen JA, Lund AM, Olesen JH, Mohr M, Rasmussen J. Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?. JIMD Rep. 2015;21:79-88. doi:10.1007/8904_2014_393.
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics. 2003 Jun;111(6):1399-406.
Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. 2010 Oct;33:295-305.
Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA. Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. Molecular genetics and metabolism. 2013 Dec 1;110(4):477-83.
Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E. Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program. Molecular genetics and metabolism. 2014 Sep 1;113(1-2):53-61.
Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M. Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. Clinical genetics. 2015 Nov;88(5):484-8.
Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: selective screening vs. expanded newborn screening. Molecular genetics and metabolism reports. 2018 Sep 1;16:5-10.
Wang T, Ma J, Zhang Q, Gao A, Wang QI, Li H, Xiang J, Wang B. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic characteristics in a Chinese population. Frontiers in genetics. 2019 Oct 29;10:1052.
Oude Luttikhuis HG, Touati G, Rabier D, Williams M, Jakobs CA, Saudubray JM. Severe hypoglycaemia in isolated 3‐methylcrotonyl‐CoA carboxylase deficiency; a rare, severe clinical presentation. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. 2005 Dec;28(6):1136-8.
Ficicioglu C, Payan I. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. Pediatrics. 2006 Dec;118(6):2555-6.
Dirik E, Yiş U, Paşaoğlu G, Chambaz C, Baumgartner MR. Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. Brain and Development. 2008 Mar 1;30(3):218-20.
Yap S, Monavari AA, Thornton P, Naughten E. Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. Journal of inherited metabolic disease. 1998 Apr;21(2):175-6.
Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut R, Stehn M, Kohlschütter A. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. European journal of pediatrics. 1999 Aug;158:730-3.
Darin N, Andersen O, Wiklund LM, Holmgren D, Holme E. 3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. Pediatric neurology. 2007 Feb 1;36(2):132-4.
Wiesmann UN, Suormala T, Pfenninger J, Baumgartner ER. Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. European journal of pediatrics. 1998 Feb;157:225-9.
de Kremer RD, Latini A, Suormala T, Baumgartner ER, Laróvere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ. Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metabolic brain disease. 2002 Mar;17:13-8.
Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M. Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. Journal of inherited metabolic disease. 2005 Apr;28:229-33.
Murayama K, Kimura M, Yamaguchi S, Shinka T, Kodama K. Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. Brain Dev. 1997 Jun;19(4):303-5.
Şahin S, Yıldırım M, Bektaş Ö, Sürücü Kara İ, Ceylan AC, Teber S. Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency. Mol Syndromol. 2021;12(6):393-398. doi:10.1159/000517272.
Al-Odaib A, Rashed M, Page T, Nyhan W, Ozand PT. 3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. Saudi Med J. 2006 May;27(5):732-3.
de Kremer RD, Latini A, Suormala T, et al. Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis. 2002;17(1):13-18. doi:10.1023/a:1014096112916.
Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency-Report from the Inborn Errors of Metabolism Information System. Molecular genetics and metabolism. 2016 May 1;118(1):15-20.
Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M. An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. Journal of Pediatric Endocrinology and Metabolism. 2015 May 1;28(5-6):669-71.
Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman‐Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O. Primary and maternal 3‐methylcrotonyl‐CoA carboxylase deficiency: insights from the Israel newborn screening program. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. 2016 Mar;39(2):211-7.
Gibson KM, Bennett MJ, Naylor EW, Morton DH: 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 1998, 132:519–523
Baumgartner MR. Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. Journal of inherited metabolic disease. 2005 May;28(3):301-9.
Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, Baumgartner MR. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Molecular Genetics and Metabolism. 2012 Apr 1;105(4):602-6.
Wilcken B. The consequences of extended newborn screening programmes: do we know who needs treatment?. Journal of inherited metabolic disease. 2008 Apr;31:173-7.
Jung CW, Lee BH, Kim JH, Kim GH, Lee J, Choi JH, Yoo HW. Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. Journal of human genetics. 2012 Jan;57(1):62-4.
Wilcken B. 3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?. Journal of inherited metabolic disease. 2016 Mar;39(2):171-2.
Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T. 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?. Journal of Pediatric Endocrinology and Metabolism. 2019 Dec 1;32(12):1321-6.
Mourmans J, Bakkeren J, De Jong J, Wevers R, Van Diggelen OP, Suormala T, Baumgartner R, Wendel U. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. Journal of inherited metabolic disease. 1995 Sep;18:643-5.
Visser G, Suormala T, Smit GP, et al. 3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. Eur J Pediatr. 2000;159(12):901-904. doi:10.1007/pl00008366.
Tuba Eminoglu F, Ozcelik AA, Okur I, Tumer L, Biberoglu G, Demir E, Hasanoglu A, Baumgartner MR. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. Journal of child neurology. 2009 Apr;24(4):478-81.
Arnold GL, Koeberl DD, Matern D, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab. 2008;93(4):363-370. doi:10.1016/j.ymgme.2007.11.002.
Finnie MD, Cottrall K, Seakins JW, Snedden W. Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. Clin Chim Acta. 1976;73(3):513-519. doi:10.1016/0009-8981(76)90155-8.
Gibson KM, Elpeleg ON, Morton DH, Wappner RS. Disorders of leucine metabolism. Physician’s guide to the laboratory diagnosis of metabolic diseases. 2003:165-89.
Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. Emergency management of inherited metabolic diseases. Journal of inherited metabolic disease. 2002 Nov;25(7):531-46.
Baker PR. Pathophysiology of Inherited Metabolic Diseases. In Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University 2022 Jun 15 (pp. 33-43). Cham: Springer International Publishing.
Smith EH, Matern D. Acylcarnitine analysis by tandem mass spectrometry. Current Protocols in Human Genetics. 2010 Jan;64(1):17-8.
Boneh A, Baumgartner M, Hayman M, Peters H. Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult. J Inherit Metab Dis. 2005;28(6):1139-1140. doi:10.1007/s10545-005-0163-1.
Reynolds E, Blanchard S, Jalazo E, Chakraborty P, Bailey Jr DB. Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay. Journal of Developmental & Behavioral Pediatrics. 2022 May 13:10-97.
Alliance G. Understanding genetics: a district of Columbia guide for patients and health professionals.
Baumgartner DM. 3-Methylcrotonyl-CoA carboxylase deficiency. Update. 2005 Feb
Tuchman M, Berry SA, Thuy LP, Nyhan WL. Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics. 1993 Mar;91(3):664-6.
Анисимова И.В. и др. Методические рекомендации «Метод получения сухого пятна крови на тест-бланк для проведения клинико-лабораторных исследований». 2022:34.
Bannwart C, Wermuth B, Baumgartner R, Suormala T, Weismann UN. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis. 1992;15(6):863-868. doi:10.1007/BF01800223
Краснопольская К.Д. Наследственные болезни обмена веществ. Справочное пособие для врачей. - М., 2005, 364 с.
Для продолжения работы требуется
Registration
Предыдущая страница
Следующая страница
Table of contents
Список сокращений
Термины и определения
1. Краткая информация по заболеванию или состоянию (группы заболеваний или состояний)
+
2. Диагностика заболевания или состояния (группы заболеваний или состояний) медицинские показания и противопоказания к применению методов диагностики
+
3. Лечение, включая медикаментозную и немедикаментозную терапии, диетотерапию, обезболивание, медицинские показания и противопоказания к применению методов лечения
+
4. Медицинская реабилитация и санаторно-курортное лечение, медицинские показания и противопоказания к применению методов медицинской реабилитации, в том числе основанных на использовании природных лечебных факторов
5. Профилактика и диспансерное наблюдение, медицинские показания и противопоказания к применению методов профилактики
+
6. Организация оказания медицинской помощи
7. Дополнительная информация (в том числе факторы, влияющие на исход заболевания или состояния)
Критерии оценки качества медицинской помощи
Список литературы
Приложение А1. Состав рабочей группы по разработке и пересмотру клинических рекомендаций
Приложение А2. Методология разработки клинических рекомендаций
Приложение А3. Справочные материалы, включая соответствие показаний к применению и противопоказаний, способов применения и доз лекарственных препаратов, инструкции по применению лекарственного препарата
Приложение Б. Алгоритмы действий врача
Приложение В. Информация для пациента
Приложение Г1-ГN. Шкалы оценки, вопросники и другие оценочные инструменты состояния пациента, приведенные в клинических рекомендациях
Приложение Г1. Шкала Альберта моторного развития младенцев
Данный блок поддерживает скрол*