Literature DB >> 24193437

Application of a second-tier newborn screening assay for c5 isoforms.

T Cloppenborg1, N Janzen, Hj Wagner, U Steuerwald, M Peter, Am Das.   

Abstract

We report a case of false-positive metabolic screening for isovaleric acidemia in a newborn due to treatment of the mother with pivalic acid containing antibiotics before delivery. By using a recently established second-tier test based on the tandem-MS technique, we could identify pivalic acid in a dried blood sample taken during routine neonatal screening. Before this second-tier test was initiated, diverse analytical procedures were performed in the baby to rule out isovaleric acidemia and carnitine supplementation was started. This caused additional psychological burden to the family. The direct use of the second-tier test would have avoided these negative consequences of a false-positive screening result.

Entities:  

Year:  2013        PMID： 24193437      PMCID： PMC4110328          DOI： 10.1007/8904_2013_275

Source DB:  PubMed          Journal:  JIMD Rep        ISSN： 2192-8304


  14 in total

1.  Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.

Authors:  Isaac Ferrer; Pedro Ruiz-Sala; Yolanda Vicente; Begoña Merinero; Celia Pérez-Cerdá; Magdalena Ugarte
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2007-10-22       Impact factor: 3.205

2.  Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry.

Authors:  Yasuhiro Maeda; Tetsuya Ito; Atsuko Suzuki; Yukihisa Kurono; Akihito Ueta; Kyoko Yokoi; Satoshi Sumi; Hajime Togari; Naruji Sugiyama
Journal:  Rapid Commun Mass Spectrom       Date:  2007       Impact factor: 2.419

3.  Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.

Authors:  Sabrina Forni; Xiaowei Fu; Susan E Palmer; Lawrence Sweetman
Journal:  Mol Genet Metab       Date:  2010-06-10       Impact factor: 4.797

Review 4.  A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.

Authors:  J Hewlett; S E Waisbren
Journal:  J Inherit Metab Dis       Date:  2006-08-17       Impact factor: 4.982

5.  Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Authors:  Regina Ensenauer; Ralph Fingerhut; Esther M Maier; Roman Polanetz; Bernhard Olgemöller; Wulf Röschinger; Ania C Muntau
Journal:  Clin Chem       Date:  2011-02-18       Impact factor: 8.327

6.  UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.

Authors:  Nils Janzen; Ulrike Steuerwald; Stefanie Sander; Michael Terhardt; Michael Peter; Johannes Sander
Journal:  Clin Chim Acta       Date:  2013-03-13       Impact factor: 3.786

7.  Pivampicillin-promoted excretion of pivaloylcarnitine in humans.

Authors:  B Melegh; J Kerner; L L Bieber
Journal:  Biochem Pharmacol       Date:  1987-10-15       Impact factor: 5.858

8.  Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme.

Authors:  J E Abdenur; N A Chamoles; A E Guinle; A B Schenone; A N Fuertes
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

9.  Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:  David M S 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; 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 G 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 R C 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; Jón J Jónsson; Eszter Karg; David Kasper; Brenda Klopper; Dimitris Katakouzinos; Issam Khneisser; Detlef Knoll; Hirinori Kobayashi; Ronald Koneski; Viktor Kozich; 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; Mark A Morrissey; Paraskevi Moutsatsou; Eleanor A Mulcahy; Dimitris Nikoloudis; Bent Norgaard-Pedersen; Devin Oglesbee; Mariusz Oltarzewski; Daniela Ombrone; Jelili Ojodu; Vagelis Papakonstantinou; Sherly Pardo Reoyo; Hyung-Doo Park; Marzia Pasquali; Elisabetta Pasquini; Pallavi Patel; Kenneth A Pass; Colleen Peterson; Rolf D Pettersen; James J Pitt; Sherry Poh; Arnold Pollak; Cory Porter; Philip A Poston; Ricky W Price; Cecilia Queijo; Jonessy Quesada; Edward Randell; Enzo Ranieri; Kimiyo Raymond; John E Reddic; Alejandra Reuben; Charla Ricciardi; Piero Rinaldo; Jeff D Rivera; Alicia Roberts; Hugo Rocha; Geraldine Roche; Cheryl Rochman Greenberg; José María Egea Mellado; María Jesús Juan-Fita; Consuelo Ruiz; Margherita Ruoppolo; S Lane Rutledge; Euijung Ryu; Christine Saban; Inderneel Sahai; Maria Isabel Salazar García-Blanco; Pedro Santiago-Borrero; Andrea Schenone; Roland Schoos; Barb Schweitzer; Patricia Scott; Margretta R Seashore; Mary A Seeterlin; David E Sesser; Darrin W Sevier; Scott M Shone; Graham Sinclair; Victor A Skrinska; Eleanor L Stanley; Erin T Strovel; April L Studinski Jones; Sherlykutty Sunny; Zoltan Takats; Tijen Tanyalcin; Francesca Teofoli; J Robert Thompson; Kathy Tomashitis; Mouseline Torquado Domingos; Jasmin Torres; Rosario Torres; Silvia Tortorelli; Sandor Turi; Kimberley Turner; Nick Tzanakos; Alf G Valiente; Hillary Vallance; Marcela Vela-Amieva; Laura Vilarinho; Ulrika von Döbeln; Marie-Francoise Vincent; B Chris Vorster; Michael S Watson; Dianne Webster; Sheila Weiss; Bridget Wilcken; Veronica Wiley; Sharon K Williams; Sharon A Willis; Michael Woontner; Katherine Wright; Raquel Yahyaoui; Seiji Yamaguchi; Melissa Yssel; Wendy M Zakowicz
Journal:  Genet Med       Date:  2011-03       Impact factor: 8.822

10.  Impact of false-positive newborn metabolic screening results on early health care utilization.

Authors:  Ellen A Lipstein; James M Perrin; Susan E Waisbren; Lisa A Prosser
Journal:  Genet Med       Date:  2009-10       Impact factor: 8.822
View more
  2 in total

1.  [Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].

Authors:  Zhenzhen Hu; Jianbin Yang; Lingwei Hu; Yunfei Zhao; Chao Zhang; Rulai Yang; Xinwen Huang
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2020-10-25

2.  A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions.

Authors:  Takanari Hattori; Yoshitomo Notsu; Misa Tanaka; Miki Matsui; Tetsuo Iida; Jun Watanabe; Yoshimitsu Osawa; Seiji Yamaguchi; Shozo Yano; Takeshi Taketani; Hironori Kobayashi
Journal:  Children (Basel)       Date:  2022-05-10
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.