National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary

Clinical Chemistry

Volumn 55, Issue 9, 2009, Pages 1615-1626

  Dietzen, Dennis J ^a   Rinaldo, Piero ^b   Whitley, Ronald J ^c   Rhead, William J ^d   Hannon, W Harry ^e   Garg, Uttam C ^f   Lo, Stanley F ^d   Bennett, Michael J ^g,h  

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

^b Mayo Clinic   (United States)

^c UNIVERSITY OF KENTUCKY MEDICAL CENTER   (United States)

^d CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^e CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^f UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; CARBOXYLIC ACID DERIVATIVE; CARNITINE DERIVATIVE;

DIAGNOSTIC VALUE; FOLLOW UP; HUMAN; INBORN ERROR OF METABOLISM; NEWBORN SCREENING; PRACTICE GUIDELINE; PREVALENCE; RELIABILITY; REVIEW; SCREENING TEST; STANDARD; TANDEM MASS SPECTROMETRY; TECHNOLOGY;

FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 69549118945     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2009.131300     Document Type: Review

References (43)

1. Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: World Health Organization; 1968.
2. Meryash DL, Levy HL, Guthrie R, Warner R, Bloom S, Carr JR. Prospective study of early neonatal screening for phenylketonuria. N Engl J Med 1981;304:294-296 (Pubitemid 11166884)
3. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-343
4. Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev 2006;12:255-261 (Pubitemid 46053451)
5. Impact of expanded newborn screening - United States, 2006. MMWR. Morb Mortal Wkly Rep 2008;19:57:1012-1015
6. Classifying recommendations for clinical practice guidelines. Pediatrics 2004;114:874-877 (Pubitemid 41529554)
7. Newborn screening: toward a uniform screening panel and system. Genet Med 2006;8 Suppl 1:1S-252S.
8. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304-2312 (Pubitemid 36638104)
9. Allard P, Grenier A, Korson MS, Zytkovicz TH. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 2004;37:1010-1015 (Pubitemid 39388663)
10. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 2006;29:76-85.
11. Dhondt JL, Farriaux JP, Amedee MO, Cartigny B, Sweetman L, Duran M. Antenatal diagnosis of propionic acidaemia by methylcitrate determination. J Inherit Metab Dis 1981;4:49-50.
12. Aramaki S, Lehotay D, Nyhan WL, MacLeod PM, Sweetman L. Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia. J Inherit Metab Dis 1989;12:86-88 (Pubitemid 19095913)
13. Merinero B, DelValle JA, Jimenez A, Garcia MJ, Ugarte M, Solaguren R, et al. Late onset type of propionic acidaemia: case report and biochemical studies. J Inherit Metab Dis 1981;4:71-72 (Pubitemid 11038405)
14. Wolf B, Paulsen EP, Hsia YE. Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl. J Pediatr 1979;95:563-565 (Pubitemid 9247439)
15. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 1999;14 Suppl 1:S4-8.
16. Nennstiel-Ratzel U, Arenz S, Maier EM, Knerr I, Baumkotter J, Roschinger W, et al. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c. 985A>G identified by neonatal screening. Mol Genet Metab 2005;85:157-159
17. Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007;369:37-42. (Pubitemid 46027226)
18. Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 2006;8:205-212 (Pubitemid 43756052)
19. Chien YH, Chiang SC, Huang A, Lin JM, Chiu YN, Chou SP et al. Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment. Acta Paediatr Taiwan 2004;45:320-323 (Pubitemid 40502773)
20. Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA. The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis 2007;30:29-34. (Pubitemid 46140222)
21. Abadie V, Berthelot J, Feillet F, Maurin N, Mercier A, de Baulney HO, De Parscan L. Neonatal screening and long-term follow-up of phenylketonuria: the French database. Early Hum Dev 2001;65:149-158 (Pubitemid 32964700)
22. Azen C, Koch R, Friedman E, Wenz E, Fishler K. Summary of findings from the United States Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S29-32.
23. Simon E, Fingerhut R, Baumkotter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis 2006;29:532-537 (Pubitemid 44193267)
24. Lindner M, Ho S, Fang-Hoffmann J, Hoffmann GF, Kolker S. Neonatal screening for glutaric aciduria type I: strategies to proceed. J Inherit Metab Dis 2006;29:378-382 (Pubitemid 43880638)
25. Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. C Semin Med Genet 2003;121C:38-52. (Pubitemid 37064090)
26. Hsieh CT, Hwu WL, Huang YT, Huang AC, Wang SF, Hu MH, Chien YH. Early detection of glutaric aciduria type I by newborn screening in Taiwan. J Formos Med Assoc 2008;107:139-144
27. Kolker S, Garbade SF, Boy N, Maier EM, Meissner T, Muhlhausen C et al. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 2007;62:357-363 (Pubitemid 47301490)
28. Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 2006;29:383-389
29. Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turucek F, Gelb MH. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-1796 (Pubitemid 39298007)
30. Wang D, Eadala B, Sadilek M, Chamoles NA, Turucek F, Scott CR, Gelb MH. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900. (Pubitemid 40577928)
31. Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404. (Pubitemid 43880641)
32. Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab 2007;90:157-163 (Pubitemid 46108612)
33. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-1557 (Pubitemid 46717522)
34. Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, Ojkazaki S, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007;90:171-180 (Pubitemid 46108607)
35. Tokic V, Barisic I, Huzjak N, Petkovic G, Fumic K, Pasche E. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur J Pediatr 2007;166:727-732 (Pubitemid 46800739)
36. Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, et al. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 2006;88:16-21.
37. Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54:657-664 (Pubitemid 351573716)
38. Minutti CZ, Lacey JM, Magera MJ, Hahn Sh, McCann M, Schulze A, et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004;89:3687-3693 (Pubitemid 39071456)
39. Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004;50:621-625 (Pubitemid 38297314)
40. Mushtaq I, Logan S, Morris M, Johnson AW, Wade AM, Kelly D, Clayton PT. Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. BMJ 1999;319:471-477 (Pubitemid 29391352)
41. Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 2001;308:173-178 (Pubitemid 32537623)
42. Cardicci C, Santagata S, Leuzzi V, Carducci C, Artiola C, Giovanniello T, et al. Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin Chim Acta 2006;364:180-187 (Pubitemid 43120639)
43. Wilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography- tandem mass spectrometry: application to newborn screening. Clin Chem 2008;54:1961-1968 (Pubitemid 352774028)