LC-MS/MS progress in newborn screening

Clinical Biochemistry

Volumn 44, Issue 1, 2011, Pages 21-31

  Lehotay, D C ^a,b   Hall, P ^a,b   Lepage, J ^a   Eichhorst, J C ^a,b   Etter, M L ^a   Greenberg, C R ^c  

^a Saskatchewan Disease Control Laboratory   (Canada)

^b UNIVERSITY OF SASKATCHEWAN   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

Author keywords

Acylcarnitines; Amino acids; Inherited metabolic disorders; LC MS MS; Liquid chromatography; Lysosomal storage diseases; Neonatal screening; Newborn screening; Quality control; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; AMINO ACID; CARNITINE PALMITOYLTRANSFERASE;

BLOOD SAMPLING; CONGENITAL ADRENAL HYPERPLASIA; GALACTOSEMIA; HUMAN; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; INBORN ERROR OF METABOLISM; LIQUID CHROMATOGRAPHY; LYSOSOME STORAGE DISEASE; MAPLE SYRUP URINE DISEASE; METABOLIC DISORDER; NEWBORN SCREENING; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; REVIEW; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

CARNITINE; CHROMATOGRAPHY, LIQUID; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 78650901413     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2010.08.007     Document Type: Review

References (62)

1. Guthrie R., Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963, 32:338-343.
2. Chace D.H., Hillman S.L., Millington D.S., Kahler S.G., Roe C.R., Naylor E.W. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995, 41:62-68.
3. Chace D.H., Millington D.S., Terada N., Kahler S.G., Roe C.R., Hofman L.F. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993, 39:66-71.
4. Millington D.S., Terada N., Chace D.H., Chen Y.T., Ding J.H., Kodo N., et al. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res 1992, 375:339-354.
5. Millington D.S., Kodo N., Norwood D.L., Roe C.R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990, 13:321-324.
6. Van Hove J.L., Zhang W., Kahler S.G., Roe C.R., Chen Y.T., Terada N., et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 1993, 52:958-966.
7. Chace D.H., Hillman S.L., Van Hove J.L., Naylor E.W. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 1997, 43:2106-2113.
8. Wilson J.M., Jungner Y.G. Principles and Practice of Screening for Disease 1968, WHO, Geneva, Ref Type: Report.
9. Koch R., Trefz F., Waisbren S. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab 2010, 99(Suppl-74).
10. Hoeks M.P., den H.M., Janssen M.C. Adult issues in phenylketonuria. Neth J Med 2009, 67:2-7. [Review] [62 refs].
11. de Baulny H.O., Abadie V., Feillet F., de P.L. Management of phenylketonuria and hyperphenylalaninemia. Journal of Nutrition. 137:Suppl-1563S.
12. Levy H.L. Historical background for the maternal PKU syndrome. Pediatrics 2003, 112:t-8.
13. Moyle J.J., Fox A.M., Bynevelt M., Arthur M., Burnett J.R. A neuropsychological profile of off-diet adults with phenylketonuria. J Clin Exp Neuropsychol: Official J Intl Neuropsychol Soc 2007, 29:436-441.
14. Schmidt E., Burgard P., Rupp A. Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria. Eur J Pediatr 1996, 155(Suppl-6).
15. Schmidt E., Rupp A., Burgard P., Pietz J., Weglage J., de S.L. Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level. J Clin Exp Neuropsychol: Official J Intl Neuropsychol Soc 1994, 16:681-688.
16. Derks T.G., Reijngoud D.J., Waterham H.R., Gerver W.J., van den Berg M.P., Sauer P.J., et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 2006, 148:665-670.
17. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 2006, 117(t-307). American College of Medical Genetics Newborn Screening Expert Group.
18. Watson M.S.P., Mann M.Y.M., Lloyd-Puryear M.A.M., Rinaldo P.M. Executive summary [Miscellaneous]. Newborn screening: toward a uniform screening panel and system. Genet Med 2006, 8:1S-11S.
19. Watson M.S.P., Lloyd-Puryear M.A.M., Mann M.Y.M., Rinaldo P.M., Howell R.R.M. Main Report. [Report]. Newborn screening: toward a uniform screening panel and system. Genet Med 2006, 8:12S-252S.
20. Plass A.M., van El C.G., Pieters T., Cornel M.C. Neonatal screening for treatable and untreatable disorders: prospective parents' opinions. Pediatrics 2010, 125:e99-e106.
21. Tanaka K., Budd M.A., Efron M.L., Isselbacher K.J. Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc Natl Acad Sci USA 1966, 56:236-242.
22. Tanaka K., Isselbacher K.J. The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia. J Biol Chem 1967, 242:2966-2972.
23. Horning E.C., Horning M.G. Metabolic profiles: gas-phase methods for analysis of metabolites. Clin Chem 1971, 17:802-809.
24. Mamer O.A., Crawhall J.C., Tjoa S.S. The identification of urinary acids by coupled gas chromatography-mass spectrometry. Clin Chim Acta 1971, 32:171-184.
25. Crawhall J.C., Mamer O., Tjoa S., Claveau J.C. Urinary phenolic acids in tyrosinemia. Identification and quantitation by gas chromatography-mass spectrometry. Clin Chim Acta 1971, 34:47-54.
26. Lancaster G., Lamm P., Scriver C.R., Tjoa S.S., Mamer O.A. Quantitative analysis of branched-chain alpha-keto acids as their trimethylsilylated oximes. Clin Chim Acta 1973, 48:279-285.
27. Olpin S.E. The metabolic investigation of sudden infant death. Ann Clin Biochem 2004, 41:4-93. [Review] [53 refs].
28. 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.
29. Miller J., Tuerck J. Newborn screening for preterm, low birth weight, and sick newborns; approved guideline. CLSI document I/LA 31-A 2009, 1-69. Clinical Laboratory Standards Institute, Wayne, PA, Ref Type: Generic.
30. Tarini B.A., Christakis D.A., Welch H.G. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 2006, 118:448-456.
31. Techakittiroj C., Cunningham A., Hooper P.F., Andersson H.C., Thoene J. High protein diet mimics hypertyrosinemia in newborn infants. J Pediatr 2005, 146:281-282.
32. Clow C.L., Laberge C., Scriver C.R. Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J 1975, 113:624-626.
33. Allard P., Grenier A., Korson M.S., Zytkovicz T.H. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 2004, 37:1010-1015.
34. la Mara G., Malvagia S., Pasquini E., Innocenti M., Fernandez M.R., Donati M.A., et al. The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs. Rapid Commun Mass Spectrom 2008, 22:812-818.
35. la Mara G., Malvagia S., Pasquini E., Innocenti M., Donati M.A., Zammarchi E. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin Chem 2007, 53:1364-1369.
36. Kuhara T., Ohse M., Inoue Y., Yorifuji T., Sakura N., Mitsubuchi H., et al. Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples. J Inherit Metab Dis 2002, 25(2):98-106.
37. Matern D., Tortorelli S., Oglesbee D., Gavrilov D., Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007, 30(4):585-592.
38. Etter M.L., Eichhorst J., Lehotay D.C. Clinical determination of 17-hydroxyprogesterone in serum by LC-MS/MS: comparison to Coat-A-Count RIA method. J Chromatogr B Anal Technol Biomed Life Sci 2006, 840:69-74.
39. Lacey J.M., Minutti C.Z., Magera M.J., Tauscher A.L., 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.
40. Minutti C.Z., Lacey J.M., Magera M.J., Hahn S.H., 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.
41. Thompson R., Van Caeseele P., Taback S., Lehotay D.C. Screening for CAH by MS/MS as a primary screen. Newborn Screening Symposium 2008, Ref Type: Abstract.
42. Lemay J.F., Lambert M.A., Mitchell G.A., Vanasse M., Valle D., Arbour J.F., et al. Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. J Pediatr 1992, 121(t-30).
43. Sokoro A.A., Lepage J., Antonishyn N., McDonald R., Greenberg C.R., Irvine J., et al. Diagnosis and high incidence of hyperornithinemia-hyperammonemia-hyperhomocitrullinemia (HHH) syndrome in northern Saskatchewan. J Inherit Metab Dis 2010, 33.
44. Jensen U.G., Brandt N.J., Christensen E., Skovby F., Norgaard-Pedersen B., Simonsen H. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Clin Chem 2001, 47:1364-1372.
45. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. Prevalence of lysosomal storage disorders. JAMA 1999, 281:249-254.
46. Sanderson S., Green A., Preece M.A., Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child 2006, 91:896-899.
47. Watson M., Mann M., Lloyd-Puryear M., Rinaldo P. Executive summary. Genet Med 2006, 8:1-11S.
48. Watson M., Lloyd-Puryear M., Mann M., Rinaldo P., Howell R. Main report. Genet Med 2006, 8:12-252S.
49. Li Y., Brockmann K., Turecek F., Scott C.R., Gelb M.H. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 2004, 50:638-640.
50. Chamoles N.A., Blanco M., Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001, 308:195-196.
51. Chamoles N.A., Blanco M., Gaggioli D., Casentini C. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002, 317:191-197.
52. Chamoles N.A., Blanco M., Gaggioli D., Casentini C. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002, 318:133-137.
53. la Marca G., Casetta B., Malvagia S., Guerrini R., Zammarchi E. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. Anal Chem 2009, 81:6113-6121.
54. Zhang X.K., Elbin C.S., Chuang W.L., Cooper S.K., Marashio C.A., Beauregard C., et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008, 54:1725-1728.
55. Blanchard S., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 2008, 54:2067-2070.
56. Wang D., Wood T., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem 2007, 53:137-140.
57. Duffey, Trisha A., Gelb M.H., Turecek F., Scott C.R., Khaliq Tanvir Newborn screening for lysosomal storage disorders: tandem mass spectrometry to quantitate enzymatic activity. 2010 Lysosomal Disease Network World Symposium 2010, Ref Type: Conference Proceeding.
58. Duffner P.K., Caggana M., Orsini J.J., Wenger D.A., Patterson M.C., Crosley C.J., et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 2009, 40:245-252.
59. Knapp A.A., Kemper A.R., Perrin J.M. Evidence review: Krabbe Disease 12-21-2009, prepared for: Maternal and Child Health Bureau, Ref Type: Report.
60. De J.V., Zhang X.K., Keutzer J., Bodamer O.A., Muhl A., Orsini J.J., et al. Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem 2009, 55:158-164.
61. Millington D.S., Sista R., Eckhardt A., Rouse J., Bali D., Goldberg R., et al. Digital microfluidics: a future technology in the newborn screening laboratory?. Semin Perinatol 2010, 34:163-169.
62. Dietzen D.J., Rinaldo P., Whitley R.J., Rhead W.J., Hannon W.H., Garg U.C., et al. 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. Clin Chem 2009, 55:1615-1626.