Skip to main content

Advertisement

SpringerLink
Log in

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

  • Review
  • Published:
Analytical and Bioanalytical Chemistry Aims and scope Submit manuscript

Abstract

Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis. However, every expansion of the screening panel requires critical review, discussion, and pilot studies. Different legal regulations and ethical concerns may lead to different decisions. Without claiming to be comprehensive, this review tries to give an overview of newborn screening, including its main problems and target diseases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

Abbreviations

3-MCC:

3-methylcrotonyl-CoA carboxylase

17-OHP:

17α-hydroxyprogesterone

CAH:

congenital adrenal hyperplasia

CF:

cystic fibrosis

CH:

congenital hypothyroidism

CPT-I:

carnitine palmitoyl transferase I

DBS:

dried blood spots

G6P-DH:

glucose-6-phosphate dehydrogenase

GALT:

galactose-1-phosphate uridyl transferase

IRT:

immunoreactive trypsin

MCAD:

medium-chain acyl-CoA dehydrogenase

MSUD:

maple sirup urine disease N-acetylglutamate synthase

PKU:

phenylketonuria

RIVM:

Dutch National Institute for Health and the Environment

TMS:

tandem mass spectrometry

TSH:

thyroid stimulating hormone

References

  1. Wald NJ (1994) J Med Screen 1:76

    Google Scholar 

  2. Wilson JMG, Jungner G (1968) Public health papers no 34. World Health Organization, Geneva

    Google Scholar 

  3. Wald NJ (2001) J Med Screen 8:169

    Article  CAS  Google Scholar 

  4. Bickel H (1954) Exp Med Surg 12:114–117

    CAS  Google Scholar 

  5. Bickel H, Gerrard J, Hickmans EM (1954) Acta Pediatr 43:64–77

    Article  CAS  Google Scholar 

  6. Armstrong MD, Low NL, Bosma JF (1957) Am J Clin Nutr 5:543–554

    CAS  Google Scholar 

  7. Fölling A (1934) Z Physiol Chem 227:169–176

    Google Scholar 

  8. Armstrong MD, Tyler FH (1955) J Clin Invest 34:565–580

    Article  CAS  Google Scholar 

  9. Guthrie R, Susi A (1963) Pediatrics 32:338–343

    CAS  Google Scholar 

  10. Jervis GA (1937) Arch Neurol Psychiatry 38:944–963

    Google Scholar 

  11. Jervis GA (1939) J Ment Sci 85:719–762

    Google Scholar 

  12. Naylor EW, Guthrie R (1978) Pediatrics 61:262–266

    CAS  Google Scholar 

  13. Yap S, Naughten E (1998) J Inherit Metab Dis 21:738–747

    Article  CAS  Google Scholar 

  14. Levy HL, Shih VE, Madigan PM (1974) N Engl J Med 5:1214–1219

    Google Scholar 

  15. Beutler E, Baluda MC (1966) J Lab Clin Med 68:137–141

    CAS  Google Scholar 

  16. Paigen K, Pacholec F, Levy HL (1982) J Lab Clin Med 99:895–907

    CAS  Google Scholar 

  17. Larsen PR, Broskin K (1975) Pediatr Res 9:604–609

    Article  CAS  Google Scholar 

  18. Dussault JH, Parlow A, Letarte J, Guyda H, Laberge C (1976) J Pediatr 89:550–552

    Article  CAS  Google Scholar 

  19. Heard GS, Secor McVoy JR, Wolf B (1984) Clin Chem 30:125–127

    CAS  Google Scholar 

  20. Piazzi S, Capelli M, Paolini M, Perugini D, Grossi G, Balsamo A, Salomoni P, Cassio A, Bugiardini G, Cacciari E (1982) J Endocrinol Invest 5:87–90

    CAS  Google Scholar 

  21. Yaswon GI, Huntsman RG, Metters JS (1970) J Clin Pathol 23:533–537

    Article  CAS  Google Scholar 

  22. Beutler E (1966) Blood 28:553–562

    CAS  Google Scholar 

  23. Ryley HC, Robinson PG, Yamashiro Y, Bradley DM (1981) J Clin Pathol 34:906–910

    Article  CAS  Google Scholar 

  24. Millington DS, Kodo N, Norwood DL, Roe CR (1990) J Inherit Metab Dis 13:321–324

    Article  CAS  Google Scholar 

  25. Chace DH, Kalas TA, Naylor EW (2003) Clin Chem 49:1797–1817

    Article  CAS  Google Scholar 

  26. Wilcken B, Wiley V, Hammond J, Carpenter K (2003) N Engl J Med 348:2304–2312

    Article  CAS  Google Scholar 

  27. Chace DH, Kalas TA (2005) Clin Biochem 38:296–309

    Article  CAS  Google Scholar 

  28. Röschinger W, Olgemöller B, Fingerhut R, Liebl B, Roscher AA (2003) Eur J Pediatr 162:S67–S76

    Article  CAS  Google Scholar 

  29. Sawada T, Kidowaki T, Sakamoto I, Hashida T, Matsumura T, Nakagawa M, Kusunoki T (1984) Cancer 53:2731–2735

    Article  CAS  Google Scholar 

  30. Wald NJ (1996) J Med Screen 3:57

    CAS  Google Scholar 

  31. Harper PS (1996) J Med Screen 3:165–166

    CAS  Google Scholar 

  32. Paigen K, Pacholec F, Levy HL (1982) J Lab Clin Med 99:895–907

    CAS  Google Scholar 

  33. Berry GT, Nissim I, Gibson JB, Mazur AT, Lin Z, Elsas LJ, Singh RH, Klein PD, Segal S (1997) Eur J Pediatr 156:S43–S49

    Article  CAS  Google Scholar 

  34. Diepenbrock F, Heckler R, Schickling H, Engelhard T, Bock D, Sander J (1992) Clin Biochem 25:37–39

    Article  CAS  Google Scholar 

  35. Rhode H, Elei E, Taube I, Podskarbi T, Horn A (1998) Clin Chim Acta 274:71–87

    Article  CAS  Google Scholar 

  36. Lin HC, Kirby LT, Ng WG (1994) Hum Genet 93:167–169

    Article  CAS  Google Scholar 

  37. Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J (1994) Am J Hum Genet 54:1030–1036

    CAS  Google Scholar 

  38. Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW (2003) J Mol Diagn 5:42–47

    CAS  Google Scholar 

  39. Seltzer WK, Accurso F, Fall MZ, VanRiper AJ, Descartes M, Huang Y, McCabe ER (1991) Biochem Med Metab Biol 1:105–109

    Article  Google Scholar 

  40. Kösel S, Burggraf S, Fingerhut R, Dörr HG, Roscher AA, Olgemöller B (2005) Clin Chem 51:298–304

    Article  CAS  Google Scholar 

  41. Wilcken B (2007) J Inherit Metab Dis 30:537–543

    Article  Google Scholar 

  42. Wilcken B, Towns SJ, Mellis CM (1983) Arch Dis Child 58:863–866

    Article  CAS  Google Scholar 

  43. Sarles J, Barthellemy S, Férec C, Iovanna J, Roussey M, Farriaux JP, Toutain A, Berthelot J, Maurin N, Codet JP, Berthézène P, Dagorn JC (1999) Arch Dis Child Fetal Neonatal Ed 80:118–122

    Google Scholar 

  44. Sarles J, Berthézène P, Le Louarn C, Somma C, Perini JM, Catheline M, Mirallié S, Luzet K, Roussey M, Farriaux JP, Berthelot J, Dagorn JC (2005) J Pediatr 147:302–305

    Article  CAS  Google Scholar 

  45. Barthellemy S, Maurin N, Roussey M, Férec C, Murolo S, Berthézène P, Iovanna JL, Dagorn JC, Sarles J (2001) Arch Pediatr 8:275–281

    Article  CAS  Google Scholar 

  46. Taimela E, Aalto M, Viikari J, Nuutila P, Irjala K (1995) Scand J Clin Lab Invest 55:537–541

    Article  CAS  Google Scholar 

  47. Thomson JJ (1909) Philos Mag VI 18:821–845

    Google Scholar 

  48. Yost RA, Enke CGJ (1978) Am Chem Soc 100:2274

    Article  CAS  Google Scholar 

  49. Dole M, Mack LL, Hines RL, Mobley RC, Ferguson LD, Alice MB (1968) J Chem Phys 49:2240

    Article  CAS  Google Scholar 

  50. Yamashita M, Fenn JB (1984) J Phys Chem 88:4451

    Article  CAS  Google Scholar 

  51. Yamashita M, Fenn JB (1984) J Phys Chem 88:4671

    Article  CAS  Google Scholar 

  52. Gempel K, Olgemöller B (2008) Anal Bioanal Chem (in preparation)

  53. Therrell BL, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, Gonzalez J, Gunn S (1998) Pediatrics 101:583–590

    Article  Google Scholar 

  54. Simon E, Schwarz M, Roos J, Dragano N, Geraedes M, Siegridt J, Kamp G, Wendel U (2008) Health Qual Life Outcomes 6:25 doi:10.1186/1477-7525-6-25

    Article  Google Scholar 

  55. Michalis-Matalon K (2008) Expert Opin Investig Drugs 17:245–251

    Article  Google Scholar 

  56. Giovanni M, Verduci E, Salvatici E, Fiori L, Riva E (2007) J Inherit Metab Dis 30:145–152

    Article  CAS  Google Scholar 

  57. Matalon R, Michals-Matalon K, Bhatia G, Burlina AB, Burlina AP, Braga C, Fiori L, Giovannini M, Grechanina E, Novikov P, Grady J, Tyring SK, Guttler F (2007) J Inherit Metab Dis 30:153–158

    Article  CAS  Google Scholar 

  58. Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA (2002) N Engl J Med 347:2122–2132

    Article  CAS  Google Scholar 

  59. Chuang D, Shih V (2001) In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 8th edn. McGraw-Hill, New York, pp 1971–2009

    Google Scholar 

  60. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI (2002) Pediatrics 109:999–1008

    Article  Google Scholar 

  61. Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U (2005) Mol Genet Metab 84:313–316

    Article  CAS  Google Scholar 

  62. Simon E, Fingerhut R, Baumkotter J, Konstantopoulou V, Ratschmann R, Wendel U (2006) J Inherit Metab Dis 29:532–537

    Article  CAS  Google Scholar 

  63. Peterschmitt MJ, Simmons JR, Levy HL (1999) N Engl J Med 341:1572–1576

    Article  CAS  Google Scholar 

  64. Linnebank M, Homberger A, Junker R, Nowak-Goettl U, Harms E, Koch HG (2001) Thromb Haemost 85:986–988

    CAS  Google Scholar 

  65. Pass KA, Morrissey M (2008) Clin Chem 54:627–629

    Article  CAS  Google Scholar 

  66. Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D (2008) Clin Chem 54:657–664

    Article  CAS  Google Scholar 

  67. La Marca G, Malvagia S, Pasquini E, Innocenti M, Fernandez MR, Donati MA, Zammarchi E (2008) Rapid Commun Mass Spectrom 22:812–816

    Article  CAS  Google Scholar 

  68. Johnson DW, Gerace R, Ranieri E, Trinh MU, Fingerhut R (2007) Rapid Commun Mass Spectrom 21:59–63

    Article  CAS  Google Scholar 

  69. Sander J, Janzen N, Peter M, Sander S, Steuerwald U, Holtkamp U, Schwahn B, Mayatepek E, Trefz FK, Das AM (2006) Clin Chem 52:482–487

    Article  CAS  Google Scholar 

  70. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A (2007) N Engl J Med 356:2282–2292

    Article  CAS  Google Scholar 

  71. Francois B, Cornu G, de Meyer R (1976) Arch Dis Child 51:228–231

    Article  CAS  Google Scholar 

  72. Crombez EA, Cederbaum SD (2005) Mol Genet Metab 84:243–251

    Article  CAS  Google Scholar 

  73. Cederbaum SD, Yu H, Grody WW, Kern RM, Yoo P, Iyer RK (2002) Mol Genet Metab 81:S38–S44

    Article  CAS  Google Scholar 

  74. Scaglia F, Lee B (2006) Am J Med Genet C Semin Med Genet 142:113–120

    Google Scholar 

  75. Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT (2005) J Inherit Metab Dis 28:673–679

    Article  CAS  Google Scholar 

  76. Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH (2008) Mol Genet Metab 94:143–147

    Article  CAS  Google Scholar 

  77. Ito F, Aoki K, Eto Y (1981) J Biochem 135:227–229

    CAS  Google Scholar 

  78. Garvey AM, Gordon N (1969) Br J Disord Commun 4:146–150

    Article  CAS  Google Scholar 

  79. Ishikawa M (1987) Acta Paediatr Jpn 29:224–228

    CAS  Google Scholar 

  80. Duffner PK, Cohen ME (1975) Neurology 25:195–197

    CAS  Google Scholar 

  81. Lam WK, Cleary MA, Wraith JE, Walter JH (1996) Arch Dis Child 74:343–346

    Article  CAS  Google Scholar 

  82. Pelkonen R, Kivirikko KI (1970) N Engl J Med 283:451–456

    CAS  Google Scholar 

  83. Prockop DJ (1970) N Engl J Med 283:487

    CAS  Google Scholar 

  84. Baykal T, Karaaslan I, Gokcay G, Demir F, Laleli Y, Demirkol M (2004) J Inherit Metab Dis 27:781–782

    Article  CAS  Google Scholar 

  85. Lindner M, Ho S, Fang-Hoffmann J, Hoffmann GF, Kölker S (2006) J Inherit Metab Dis 29:378–382

    Article  CAS  Google Scholar 

  86. Fingerhut R, Brackmann R, Röschinger W, Hiedl S, Roscher AA, Olgemöller B (2003) Clin Chem Lab Med 41:S97

    Google Scholar 

  87. Tanaka K (1990) Prog Clin Biol Res 321:273–290

    CAS  Google Scholar 

  88. Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D (2004) Am J Hum Genet 75:1136–1142

    Article  CAS  Google Scholar 

  89. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W (2004) Clin Pediatr Phila 43:837–843

    Article  CAS  Google Scholar 

  90. Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B (2006) J Inherit Metab Dis 29:383–389

    Article  CAS  Google Scholar 

  91. Allen RH, Stabler SP, Savage DG, Lindenbaum J (1993) FASEB J 7:1344–1353

    CAS  Google Scholar 

  92. Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P (2002) J Inherit Metab Dis 6:461–476

    Article  Google Scholar 

  93. Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM (2007) J Inherit Metab Dis 30:23–28

    Article  CAS  Google Scholar 

  94. Santer R, Fingerhut R, Lässker U, Wightman PJ, Fitzpatrick DR, Olgemöller B, Roscher AA (2003) Clin Chem 49:660–662

    Article  CAS  Google Scholar 

  95. Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W (2006) Hum Mutat 27:748–759

    Article  CAS  Google Scholar 

  96. Gibson KM, Breuer J, Nyhan WL (1988) Eur J Pediatr 148:180–186

    Article  CAS  Google Scholar 

  97. Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, Nørgaard-Petersen B, Schwartz M, Skovby F (2007) J Inherit Metab Dis 30:341–349

    Article  CAS  Google Scholar 

  98. Fukao T, Zhang GX, Sakura N, Kubo T, Yamaga H, Hazama A, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N (2003) J Inherit Metab Dis 26:423–431

    Article  CAS  Google Scholar 

  99. Ristoff E, Larsson A (2007) Orphanet J Rare Dis 2:16 doi:10.1186/1750-1172-2-16

    Article  Google Scholar 

  100. van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA (2006) JAMA 296:943–952

    Article  Google Scholar 

  101. Rhead WJ (2006) J Inherit Metab Dis 29:370–377

    Article  CAS  Google Scholar 

  102. Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA (2005) Hum Mutat 25:443–452

    Article  CAS  Google Scholar 

  103. Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U (2006) Pediatrics 118:1065–1069

    Article  Google Scholar 

  104. den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA (2002) Pediatrics 109:99–104

    Article  Google Scholar 

  105. Schaefer J, Jackson S, Dick DJ, Turnbull DM (1996) 40:597–602

  106. Das AM, Fingerhut R, Wanders RJ, Ullrich K (2000) Eur J Pediatr 159:243–246

    Article  CAS  Google Scholar 

  107. Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N (2007) Mol Genet Metab 90:441–445

    Article  CAS  Google Scholar 

  108. Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA (2001) Clin Chem 47:1763–1768

    CAS  Google Scholar 

  109. Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M (2001) Pediatrics 107:E103

    Article  CAS  Google Scholar 

  110. Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A (2007) J Inherit Metab Dis 30:815

    Article  CAS  Google Scholar 

  111. Wang ST, Pizzolato S, Demshar HP (1998) Clin Chim Acta 274:151–158

    Article  CAS  Google Scholar 

  112. Forest MG (2004) Hum Reprod Update 10:469–485

    Article  CAS  Google Scholar 

  113. Schreiner F, Brack C, Salzgeber K, Vorhoff W, Woelfle J, Gohlke B (2007) doi:10.1007/s00431-007-0505-0

  114. Gulbis B, Ferster A, Cotton F, Lebouchard M-P, Cochaux P, Vertongen F (2006) J Med Screen 13:76–78

    Article  Google Scholar 

  115. Gulbis B, Fontaine B, Verlangen F, Cotton F (2003) Ann Clin Biochem 40:659–662

    Article  CAS  Google Scholar 

  116. Wild BJ, Green BN, Stephens AD (2004) Blood Cells Mol Dis 33:308–317

    Article  CAS  Google Scholar 

  117. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL (1983) Clin Chim Acta 131:273–281

    Article  CAS  Google Scholar 

  118. Ramaekers VT, Suormala TM, Brab M, Duran R, Heimann G, Baumgartner ER (1992) Arch Dis Child 67:115–119

    Article  CAS  Google Scholar 

  119. Segal S, Berry GT (1995) In: Sriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 7th edn. McGraw-Hill, New York, pp 967–1000

    Google Scholar 

  120. Cappellini MD, Fiorelli G (2008) Lancet 371:64–74

    Article  CAS  Google Scholar 

  121. Bodamer OA, Bloesch SM, Gregg AR, Stöckler-Ipsiroglu S, O’Brien WE (2001) Clin Chim Acta 308:173–178

    Article  CAS  Google Scholar 

  122. Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S (2003) J Inherit Metab Dis 2–3:299–308

    Article  Google Scholar 

  123. Carducci C, Santagata S, Leuzzi V, Carducci C, Artiola C, Giovanniello T, Battini R, Antonozzi I (2006) Clin Chim Acta 364:180–187

    Article  CAS  Google Scholar 

  124. Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ (2004) Pediatrics 114:909–916

    Article  Google Scholar 

  125. Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH (2004) Clin Chem 50:1723–1724

    Article  CAS  Google Scholar 

  126. Wilcken B, Gaskin K (2007) Lancet 369:1146–1147

    Article  Google Scholar 

  127. Sims EJ, Mugford M, Clark A, Aitken D, McCormick J, Mehta G, Mehta A (2007) Lancet 369:1187–1195

    Article  Google Scholar 

  128. McKay KO (2007) J Inherit Metab Dis 30:544–555

    Article  CAS  Google Scholar 

  129. Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Giniès JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, F`rec C (2007) J Inherit Metab Dis 30:613 doi:10.1007/s10545-007-0633-8

    Article  CAS  Google Scholar 

  130. Lorini R, Minicucci L, Napoli F, Padovani P, Bazzigaluppi E, Tortoioli C, Cherubini V, Bottazzo G, Pozzilli P, Falorni A, Buzzetti R (2005) Acta Biomed 76(Suppl.3):31–35

    Google Scholar 

  131. Zhang VW, McPherson B, Shi BX, Tang JL, Wong BY (2008) Int J Pediatr Otorhinolaryngol 72:351–360

    Article  Google Scholar 

  132. Barbi M, Binda S, Caroppo S, Primache V (2006) J Clin Virol 35:206–209

    Article  Google Scholar 

  133. Barbi M, Binda S, Caroppo S (2006) Rev Med Virol 16:385–392

    Article  Google Scholar 

  134. Barbi M, MacKay WG, Binda S, van Loon AM (2008) BMC Microbiol 8:2 doi:10.1186/1471-2180-8-2

    Article  CAS  Google Scholar 

  135. Nance WE, Lim BG, Dodson KM (2006) J Clin Virol 35:221–225

    Article  Google Scholar 

  136. Ross SA, Fowler KB, Ashrith G, Stagno S, Britt WJ, Pass RF, Bopanna SB (2006) J Pediatr 148:332–336

    Article  Google Scholar 

  137. Peckham C, Tookey P, Logan S, Giaquinto C (2001) J Med Screen 8:119–124

    Article  CAS  Google Scholar 

  138. Walter S, Atkinson C, Sharland M, Rice P, Raglan E, Emery VC, Griffiths PD (2008) Arch Dis Child Fetal Neonatal Ed 93:F280–285

    Article  CAS  Google Scholar 

  139. Gilbert RE, Peckham CS (2002) J Med Screen 9:135–141

    Article  CAS  Google Scholar 

  140. Stevens R, Pass K, Fuller S, Wiznia A, Noble L, Duva S, Neal M (1992) J Clin Microbiol 30:2353–2358

    CAS  Google Scholar 

  141. Chamberlain J (1994) J Med Screen 1:169–175

    CAS  Google Scholar 

  142. Maris JM, Woods WG (2008) Lancet 371:1142–1143

    Article  Google Scholar 

  143. Hiyama E, Iehara T, Sugimoto T, Fukuzawa M, Hayashi Y, Sasaki F, Sugiyama M, Kondo S, Yoneda A, Yamaoka H, Tjiri T, Akazawa K, Ohtaki M (2008) Lancet 371:1173–1180

    Article  Google Scholar 

  144. Bradley DM, Parsons EP, Clarke AJ (1993) BMJ 306:357–360

    Article  CAS  Google Scholar 

  145. Parsons EP, Clarke AJ, Hood K, Lycett E, Bradley DM (2002) Arch Dis Child Fetal Neonatal Ed 86:F91–F95

    Article  CAS  Google Scholar 

  146. Huang H, Manton KG (2005) Front Biosci 10:1024–1039

    Article  CAS  Google Scholar 

  147. de Castro Toledo AC Jr, Januário JN, Rezende RMS, Siqueira AL, de Mello BF, Fialho ÉL, Ribeiro RA, da Silva HL, Pires ÉC, Simões TC, Greca DB (2005) Mem Inst Oswaldo Cruz 100:365–370

    Google Scholar 

  148. de Castro Toledo AC Jr, Januário JN, Rezende RMS, Siqueira AL, de Mello BF, Fialho ÉL, Ribeiro RA, da Silva HL, Pires ÉC, Simões TC, Greca DB (2005) Mem Inst Oswaldo Cruz 100:365–370

    Google Scholar 

  149. Mendy M, Kirk GD, van der Sande M, Jeng-Barry A, Lesi OA, Hainaut P, Sam O, McConkey S, Whittle H (2005) J Viral Hepat 12:642–647

    Article  CAS  Google Scholar 

  150. Illig R, Largo RH, Quin Q, Torresani T, Rochiocciolo P, Klett M (1988) Dtsch Med Wochenschr 104:667–671

    Article  Google Scholar 

  151. New MI (1998) Annu Rev Med 49:311–328

    Article  CAS  Google Scholar 

  152. Speiser W, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT (1992) J Clin Invest 90:584–595

    Article  CAS  Google Scholar 

  153. Torresani T, Grüters A, Scherz R, Burckhardt JJ, Harras A, Zachmann M (1994) Screening 3:77–84

    Article  Google Scholar 

  154. Allan DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A (1997) J Pediatr 130:128–133

    Article  Google Scholar 

  155. Olgemöller B, Roscher AA, Liebl B, Fingerhut R (2003) J Clin Endocrinol Metab 88:5790–5794

    Article  CAS  Google Scholar 

  156. Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D (2004) Clin Chem 50:621–625

    Article  CAS  Google Scholar 

  157. Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J (2007) J Clin Endocrinol Metab 92:2581–2589

    Article  CAS  Google Scholar 

  158. Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X (2002) Chin Med J Engl 115:217–221

    CAS  Google Scholar 

  159. Puffenberger EG (2003) Am J Med Genet C Semin Genet 121C:18–31

    Article  CAS  Google Scholar 

  160. NN (1973) Acta Paediat Scand 62:413–416

    Google Scholar 

  161. Chace DH, Sherwin JE, Hillman SL, Lorey F, Cunningham GC (1998) Clin Chem 44:2405–2409

    CAS  Google Scholar 

  162. DiGeorge AM, Rezvani I, Garibaldi LR, Schwartz M (1982) N Engl J Med 307:1492–1495

    Article  CAS  Google Scholar 

  163. Wendel U, Lombeck I, Bremer HJ (1983) N Engl J Med 308:1100–1101

    CAS  Google Scholar 

  164. Shih VE (1984) N Engl J Med 310:596–597

    CAS  Google Scholar 

  165. Kyllerman M, Steen G (1980) Arch Fr Pediatr 37:279–279

    CAS  Google Scholar 

  166. Smith WE, Millington DS, Koeberl DD, Lesser PS (2001) Pediatrics 107:1184–1187

    Article  CAS  Google Scholar 

  167. Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P (2007) J Inherit Metab Dis 30:5–22

    Article  Google Scholar 

  168. Gallagher RC, Cowan TM, Goodman SI, Enns GM (2005) Mol Genet Metab 86:417–420

    Article  CAS  Google Scholar 

  169. Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, Greenberg CR, Leffers H, Schwartz M (1997) J Inherit Metab Dis 20:383–386

    Article  CAS  Google Scholar 

  170. Vockley J, Ensenauer R (2006) Am J Med Genet C Semin Med Genet 142:95–103

    Google Scholar 

  171. van Calcar SC, Gleason LA, Lindh H, Hoffman G, Rhead W, Vockley G, Wolff JA, Durkin MS (2007) WMJ 106:12–15

    Google Scholar 

  172. Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J (2008) Mol Genet Metab 93:30–35

    Article  CAS  Google Scholar 

  173. Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV (1999) Arch Dis Child 80:459–462

    Article  CAS  Google Scholar 

  174. Zschoke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JPN, Wanders RJA, Mayatepek E (2001) Hum Genet 108:404–408

    Article  Google Scholar 

  175. Van Hove JL, Grünewald S, Jaeken J, Demaerel P, Declercq PE, Bourdoux P, Niezen-Koning K, Deanfeld JE, Leonard JV (2003) Lancet 361:1433–1435

    Article  CAS  Google Scholar 

  176. Wolf B (1991) J Inherit Metab Dis 14:923–927

    Article  CAS  Google Scholar 

  177. Zaffanello M, Zamboni G, Schadewaldt P, Borgiani P, Novelli G (2005) Genet Med 7:211–212

    Article  Google Scholar 

  178. Farrell PM, Kosorok MR, Laxova A, Shen G, Koscik RE, Bruns WT, Splaingard M, Mischler EH (1997) N Engl J Med 337:963–969

    Article  CAS  Google Scholar 

  179. Ranieri E, Lewis BD, Gerace RL, Ryall RG, Morris CP, Nelson PV, Carey WF, Robertson EF (1994) BMJ 308:1469–1472

    CAS  Google Scholar 

  180. UK Newborn Screening Program Centre (2005) http://www.ich.ucl.ac.uk/newborn/download/national_std_protocol_algorithm.pdf

  181. Wilcken B, Wiley V, Sherry G, Bayliss U (1995) J Pediatr 127:965–970

    Article  CAS  Google Scholar 

  182. Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB (2004) Pediatrics 113:1573–1581

    Article  Google Scholar 

  183. Modell B, Darlison M (2008) Bull World Health Org 06–036673

  184. Schulze A, Frommhold D, Hoffmann GF, Mayatepek E (2001) Clin Chem 47:1424–1429

    CAS  Google Scholar 

  185. Al-Dirbashi OY, Rashed MS, Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM, Al-Hassnan Z, Faqeih E (2006) J Chromatogr B Anal Technol Biomed Life Sci 831:274–280

    Article  CAS  Google Scholar 

  186. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C (2006) Am J Med Genet C Semin Med Genet 142:104–112

    Google Scholar 

  187. Fowler B (1998) Eur J Pediatr 157(Suppl 2):S60–S66

    Article  CAS  Google Scholar 

  188. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J (2006) J Inherit Metab Dis 29:76–85

    Article  CAS  Google Scholar 

  189. Gibson KM, Bennett MJ, Naylor EW, Morton DH (1998) J Pediatr 132:519–523

    Article  CAS  Google Scholar 

  190. Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR (2005) Hum Mutat 26:164

    Article  Google Scholar 

  191. Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Feigenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N (2008) Mol Genet Metab 93:363–370

    Article  CAS  Google Scholar 

  192. Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG (2003) Mol Genet Metab 80:302–306

    Article  CAS  Google Scholar 

  193. Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE (2001) Clin Chim Acta 308:173–178

    Article  CAS  Google Scholar 

  194. Stöckler S, Hanefeld F, Frahm J (1996) Lancet 348:789–790

    Article  Google Scholar 

  195. La Marca G, Malvagia S, Pasquini E, Donati MA, Gasperini S, Procopio E, Zammarcki E (2005) Rapid Commun Mass Spectrom 19:863–864

    Article  CAS  Google Scholar 

  196. Hiyama E, Iehara T, Sugimoto T, Fukuzawa M, Hayashi Y, Sasaki F, Sugiyama M, Kondo S, Yoneda A, Yamaoka H, Tjiri T, Akazawa K, Ohtaki M (2008) Lancet 371:1173–1180

    Article  Google Scholar 

  197. Wald NJ, Law M (2001) J Med Screen 8:58–59

    Article  CAS  Google Scholar 

  198. Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemöller B, Zapf A, Roscher AA (2002) Prev Med 34:127–131

    Article  Google Scholar 

  199. Smith R (2002) BMJ 324:883–885

    Article  Google Scholar 

  200. Nennstiel-Ratzel U, Arenz S, Maier EM, Knerr I, Baumkötter J, Röschinger W, Liebl B, Hadorn HB, Roscher AA, von Kries R (2005) Mol Genet Metab 55:157–159

    Article  CAS  Google Scholar 

  201. 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 (2001) Am J Hum Genet 68:1408–1418

    Article  CAS  Google Scholar 

  202. Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH (2006) J Inherit Metab Dis 29:627–630

    Article  CAS  Google Scholar 

  203. Widhalm K, Virmani K (1994) Pediatrics 94:861–866

    CAS  Google Scholar 

  204. Holtzman C, Slazyk WE, Cordero JF, Hannon WH (1986) Pediatrics 78:553–558

    CAS  Google Scholar 

  205. Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemöller B, Zapf A, Roscher AA (2002) Prev Med 34:132–137

    Article  Google Scholar 

Download references

Author information

Author notes

  1. Ralph Fingerhut

    Present address: University Children’s Hospita-Zürich, Swiss Newborn Screening, Steinwiesstrasse 75, CH 8032, Zürich, Switzerland

Authors and Affiliations

  1. Laboratory Becker, Olgemöller & Colleagues, Führichstr. 70, 81671, Munich, Germany

    Ralph Fingerhut & Bernhard Olgemöller

Authors
  1. Ralph Fingerhut
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bernhard Olgemöller
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ralph Fingerhut.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fingerhut, R., Olgemöller, B. Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Anal Bioanal Chem 393, 1481–1497 (2009). https://doi.org/10.1007/s00216-008-2505-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00216-008-2505-y

Keywords

Search

Navigation