Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: Experience of the pilot study in Andhra Pradesh, India

Indian Journal of Pediatrics

Volumn 78, Issue 8, 2011, Pages 953-960

  Sahai, Inderneel ^a   Zytkowicz, Thomas ^a   Rao Kotthuri, Srimannarayna ^b   Lakshmi Kotthuri, Anantha ^b   Eaton, Roger B ^a   Akella, Radha Rama Devi ^c  

^a UNIVERSITY OF MASSACHUSETTS BOSTON   (United States)

^b Konaseema Specialities   (India)

^c CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

Author keywords

Inborn errors of metabolism; Newborn screening; Population based study; Tandem mass spectrometry

Indexed keywords

BIOLOGICAL MARKER; CARNITINE; RIBOFLAVIN;

ARTICLE; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INDIA; ISOVALERIC ACIDURIA; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PREVALENCE; RURAL AREA; SYMPTOMATOLOGY; TANDEM MASS SPECTROMETRY;

FEMALE; HUMANS; INDIA; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PILOT PROJECTS; TANDEM MASS SPECTROMETRY;

EID: 79961169673     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-011-0398-9     Document Type: Article

References (14)

1. B Wilcken 2007 Recent advances in newborn screening J Inherit Metab Dis 30 129 133 17342450 10.1007/s10545-007-0538-6 1:STN:280:DC%2BD2s7nt1SjsQ%3D%3D (Pubitemid 46487991)
2. I Sahai D Marsden 2009 Newborn Screening Crit Rev in Cli Lab Sci. 46 55 82 10.1080/10408360802485305 1:CAS:528:DC%2BD1MXnvVOgtLo%3D
3. RJ Pollitt 2006 International perspectives on newborn screening J Inherit Metab Dis 29 390 396 16763907 10.1007/s10545-006-0259-2 1:STN:280: DC%2BD28zkvFGjtA%3D%3D (Pubitemid 43880640)
4. FA Miller 2009 The complex promise of newborn screening Indian J Med Ethics. 6 142 148 19653590
5. S Kapoor M Kabra 2010 Newborn screening in India current perspectives Indian Pediatr 47 219 223 20371888 10.1007/s13312-010-0043-0
6. AR Rama Devi SM Naushad 2004 Newborn screening in India Indian J Pediatr. 71 157 160 15053381 10.1007/BF02723099 (Pubitemid 38331933)
7. DS Millington N Kodo DL Norwood CR Roe 1990 Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism J Inherit Metab Dis 13 321 324 2122093 10.1007/BF01799385 1:CAS:528:DyaK3MXltV2ksrc%3D (Pubitemid 20338872)
8. D Chace E Naylor 1999 Expansion of newborn screening programs using automated tandem mass spectrometry Ment Retard Dev Disabil Res Rev 5 150 154 10.1002/(SICI)1098-2779(1999)5:2<150::AID-MRDD10>3.0.CO;2-U (Pubitemid 29250126)
9. DH Chace TA Kalas EW Naylor 2003 Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns Clin Chem 49 1797 1817 14578311 10.1373/clinchem.2003.022178 1:CAS:528:DC%2BD3sXosleqs7w%3D (Pubitemid 37340314)
10. P Rinaldo S Tortorelli D Matern 2004 Recent developments and new applications of tandem mass spectrometry in newborn screening Curr Opin Pediatr 16 427 433 15273505 10.1097/01.mop.0000133635.79661.84 (Pubitemid 39006492)
11. TH Zytkovicz EF Fitzgerald D Marsden, et al. 2001 Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program Clin Chem 47 1945 1955 11673361 1:CAS:528:DC%2BD3MXnvF2jtbg%3D (Pubitemid 33010710)
12. B Wilcken 2006 Mini-symposium: newborn screening for inborn errors of metabolism-clinical effectiveness Inherit Metab Dis. 29 366 369 10.1007/s10545-005-0254-z (Pubitemid 43880636)
13. C Padilla D Krotoski B Therrell Jr 2010 Newborn screening progress in developing countries-overcoming internal barriers Semin Perinatol. 34 145 155 20207264 10.1053/j.semperi.2009.12.007
14. B Wilcken 2008 Improving child health-newborn screening for all? Ann Acad Med Singapore 37 3 19904453