Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

作者： Esther Maier

关键词: Incidence (epidemiology) 、 Beneficial effects 、 MCADD 、 Screening programs 、 Pathology 、 Pediatrics 、 Clinical risk factor 、 Lower risk 、 Clinical significance 、 Medicine 、 Newborn screening

摘要: With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many programs worldwide. Together with phenylketonuria, MCADD is disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, effectively exemplifies unexpected challenges increased diagnosis by programs. MS/MS-based revealed an at least 2-fold higher incidence than expected a considerable share individuals showing mild biochemical alterations and/or novel mutations unknown clinical significance. Whether these are lower risk to experience metabolic decompensations matter ongoing debate. Defining patients, stratifying them according their risk, adopting treatment protocols as yet unmet challenge MCADD.

参考文章(52)

EM Maier, J Pongratz, AC Muntau, B Liebl, U Nennstiel-Ratzel, U Busch, R Fingerhut, B Olgemöller, AA Roscher, W Röschinger, Validation of MCADD newborn screening. Clinical Genetics. ,vol. 76, pp. 179- 187 ,(2009) , 10.1111/J.1399-0004.2009.01217.X

Yosuke Shigematsu, Satoko Hirano, Ikue Hata, Yukie Tanaka, Masakatsu Sudo, Nobuo Sakura, Tsuyoshi Tajima, Seiji Yamaguchi, Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. Journal of Chromatography B. ,vol. 776, pp. 39- 48 ,(2002) , 10.1016/S1570-0232(02)00077-6

Kay Tanaka, Niels Gregersen, Antonia Ribes, Julie Kim, Steen Kølvraa, Vibeke Winter, Hans Eiberg, Gemma Martinez, Thomas Deufel, Barbara Leifert, Rene Santer, Baudouin Francois, Ewa Pronicka, Aranka Laszló, Stanislav Kmoch, Ivo Kremensky, Luba Kalaydjicva, Imran Ozalp, Michinori Ito, A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA Pediatric Research. ,vol. 41, pp. 201- 209 ,(1997) , 10.1203/00006450-199702000-00008

William J. Rhead, Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. Journal of Inherited Metabolic Disease. ,vol. 29, pp. 370- 377 ,(2006) , 10.1007/S10545-006-0292-1

Roman Yusupov, David N. Finegold, Edwin W. Naylor, Inderneel Sahai, Susan Waisbren, Harvey L. Levy, Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening Molecular Genetics and Metabolism. ,vol. 101, pp. 33- 39 ,(2010) , 10.1016/J.YMGME.2010.05.007

Zuhair N. Al-Hassnan, Faiqa Imtiaz, Mohamed Al-Amoudi, Zuhair Rahbeeni, Moeen Al-Sayed, Mohammed Al-Owain, Hamad Al-Zaidan, Ali Al-Odaib, Mohamed S. Rashed, Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications Journal of Inherited Metabolic Disease. ,vol. 33, pp. 263- 267 ,(2010) , 10.1007/S10545-010-9143-1

Shawn E. McCandless, Ram Chandrasekar, Sharon Linard, Sandra Kikano, Lorrie Rice, Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency. Molecular Genetics and Metabolism. ,vol. 108, pp. 51- 55 ,(2013) , 10.1016/J.YMGME.2012.10.016

Donald H Chace, Steven L Hillman, Johan L K Van Hove, Edwin W Naylor, Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry Clinical Chemistry. ,vol. 43, pp. 2106- 2113 ,(1997) , 10.1093/CLINCHEM/43.11.2106

Kira-Lee Koster, Marga Sturm, Diran Herebian, Sander H. J. Smits, Ute Spiekerkoetter, Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants Journal of Inherited Metabolic Disease. ,vol. 37, pp. 917- 928 ,(2014) , 10.1007/S10545-014-9732-5

10.

David McHugh, Cynthia A Cameron, Jose E Abdenur, Mahera Abdulrahman, Ona Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J Allen, Italo Antonozzi, Shaina Archer, Sylvia Au, Christiane Auray-Blais, Mei Baker, Fiona Bamforth, Kinga Beckmann, Gessi Bentz Pino, Stanton L Berberich, Robert Binard, François Boemer, Jim Bonham, Nancy N Breen, Sandra C Bryant, Michele Caggana, S Graham Caldwell, Marta Camilot, Carlene Campbell, Claudia Carducci, Rohit Cariappa, Clover Carlisle, Ubaldo Caruso, Michela Cassanello, Ane Miren Castilla, Daisy E Castiñeiras Ramos, Pranesh Chakraborty, Ram Chandrasekar, Alfredo Chardon Ramos, David Cheillan, Yin-Hsiu Chien, Thomas A Childs, Petr Chrastina, Yuri Cleverthon Sica, Jose Angel Cocho De Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert Currier, Denis Cyr, Noemi Czuczy, Oceania D'Apolito, Tim Davis, Monique de Sain-Van der Velden, Carmen Delgado Pecellin, Iole Maria Di Gangi, Cristina Maria Di Stefano, Yannis Dotsikas, Melanie Downing, Stephen M Downs, Bonifacio Dy, Mark Dymerski, Inmaculada Rueda, Bert Elvers, Roger Eaton, Barbara M Eckerd, Fatma El Mougy, Sarah Eroh, Mercedes Espada, Catherine Evans, Sandy Fawbush, Kristel F Fijolek, Lawrence Fisher, Leifur Franzson, Dianne M Frazier, Luciana RC Garcia, Maria Sierra García-Valdecasas Bermejo, Dimitar Gavrilov, Rosemarie Gerace, Giuseppe Giordano, Yolanda González Irazabal, Lawrence C Greed, Robert Grier, Elyse Grycki, Xuefan Gu, Fizza Gulamali-Majid, Arthur F Hagar, Lianshu Han, W Harry Hannon, Christa Haslip, Fayza Abdelhamid Hassan, Miao He, Amy Hietala, Leslie Himstedt, Gary L Hoffman, William Hoffman, Philis Hoggatt, Patrick V Hopkins, David M Hougaard, Kerie Hughes, Patricia R Hunt, Wuh-Liang Hwu, June Hynes, Isabel Ibarra-González, Cindy A Ingham, Maria Ivanova, Ward B Jacox, Catharine John, John P Johnson, Eszter Karg, David Kasper, Brenda Klopper, Dimitris Katakouzinos, Issam Khneisser, Detlef Knoll, Hirinori Kobayashi, Ronald Koneski, Viktor Kožich, Rasoul Kouapei, Dirk Kohlmueller, Ivo Kremensky, Giancarlo la Marca, Marcia Lavochkin, Soo-Youn Lee, Denis C Lehotay, Aida Lemes, Joyce Lepage, Barbara Lesko, Barry Lewis, Carol Lim, Sharon Linard, Martin Lindner, Michele A Lloyd-Puryear, Fred Lorey, Yannis L Loukas, Julie Luedtke, Neil Maffitt, J Fergall Magee, Adrienne Manning, Shawn Manos, Sandrine Marie, Sônia Marchezi Hadachi, Gregg Marquardt, Stephen J Martin, Dietrich Matern, Stephanie K Mayfield Gibson, Philip Mayne, Tonya D McCallister, Mark McCann, Julie McClure, James J McGill, Christine D McKeever, Barbara McNeilly, None, Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project Genetics in Medicine. ,vol. 13, pp. 230- 254 ,(2011) , 10.1097/GIM.0B013E31820D5E67

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

来源期刊

我的账户

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

来源期刊

相似文章 4

MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.

Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids.

我的账户