Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

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• 作者：Catharina M L Touw (1) (2) (3)
  G Peter A Smit (1) (3)
  Maaike de Vries (4)
  Johannis B C de Klerk (5)
  Annet M Bosch (6)
  Gepke Visser (7)
  Margot F Mulder (8)
  M Estela Rubio-Gozalbo (9)
  Bert Elvers (10)
  Klary E Niezen-Koning (2) (3)
  Ronald J A Wanders (11)
  Hans R Waterham (11)
  Dirk-Jan Reijngoud (2) (3)
  Terry G J Derks (1) (3)
  
• 关键词：Population newborn screening ; Enzyme ; Genotype ; Prevalence
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：7
• 期：1
• 全文大小：260KB
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  10. Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D: Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5鈥墆ears of ACADM sequencing. / Mol Genet Metab 2010,100(3):241鈥?50. CrossRef
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  17. Rinaldo P, O'Shea JJ, Welch RD, Tanaka K: The enzymatic basis for the dehydrogenation of 3-phenylpropionic acid: in vitro reaction of 3-phenylpropionyl-CoA with various acyl-CoA dehydrogenases. / Pediatr Res 1990,27(5):501鈥?07. CrossRef
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  21. Fletcher JM, Pitt JJ: Fasting medium chain acyl-coenzyme A dehydrogenase-deficient children can make ketones. / Metabolism 2001,50(2):161鈥?65. CrossRef
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  23. Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N: Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. / Am J Hum Genet 2001,68(6):1408鈥?418. CrossRef
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  25. Kelly DP, Whelan AJ, Ogden ML, Alpers R, Zhang ZF, Bellus G, Gregersen N, Dorland L, Strauss AW: Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. / Proc Natl Acad Sci U S A 1990,87(23):9236鈥?240. CrossRef
  26. Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM, Bachmann C, Elsas LJ, Pollitt RJ, Rhead WJ, Roe CR: Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. / Biochem Biophys Res Commun 1990,171(1):498鈥?05. CrossRef
  27. Gregersen N, Andresen BS, Bross P, Winter V, Rudiger N, Engst S, Ghisla S, Christensen E, Kelly D, Strauss AW: Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency. / J Inherit Metab Dis 1991,14(3):314鈥?16. CrossRef
  28. Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K: Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. / Am J Hum Genet 1991,49(6):1280鈥?291.
  29. Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N: The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? / Hum Mol Genet 1997,6(5):695鈥?07. CrossRef
  30. Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemoller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E: Molecular and functional characterisation of mild MCAD deficiency. / Hum Genet 2001,108(5):404鈥?08. CrossRef
  31. Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B: Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. / Mol Genet Metab 2006,87(1):32鈥?9. CrossRef
  
• 作者单位：Catharina M L Touw (1) (2) (3)
  G Peter A Smit (1) (3)
  Maaike de Vries (4)
  Johannis B C de Klerk (5)
  Annet M Bosch (6)
  Gepke Visser (7)
  Margot F Mulder (8)
  M Estela Rubio-Gozalbo (9)
  Bert Elvers (10)
  Klary E Niezen-Koning (2) (3)
  Ronald J A Wanders (11)
  Hans R Waterham (11)
  Dirk-Jan Reijngoud (2) (3)
  Terry G J Derks (1) (3)
  
  1. Section of Metabolic Diseases, Beatrix Children鈥檚 Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
  2. Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
  3. Center for Liver, Digestive and Metabolic Diseases, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
  4. Institiute for Genetic and Metabolic Disease, Department of Paediatrics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
  5. Centre for Lysosomal and Metabolic Diseases, Department of Paediatrics, Erasmus Medical Centre, Rotterdam, The Netherlands
  6. Department of Metabolic Diseases, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
  7. Department of Metabolic and Endocrine Diseases, Wilhelmina Children鈥檚 Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands
  8. Section of Metabolic Diseases, Department of Paediatrics, VU University Medical Centre, Amsterdam, The Netherlands
  9. Department of Pediatrics and Laboratory of Genetic-Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands
  10. Laboratory for Infectious Diseases and Perinatal Screening, National institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands
  11. Laboratory Genetic Metabolic Diseases, cademic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
  

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