Screening newborn infants for treatable metabolic diseases has been in existence for over four decades. It was initiated by Dr. Robert McCready in 1962 in the Massachusetts Department of Public Health and was based on the work of Dr. Robert Guthrie for the detection of phenylketonuria. The initiation of screening for phenylketonuria and its subsequent expansion to include congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, biotinidase deficiency, and hemoglobin abnormalities has had a profound effect in preventing the serious consequences from these disorders in susceptible individuals (for review, see Levy and Albers, 2000). The basis of newborn screening is founded on the availability of a simple test that can be performed on a drop of blood obtained from an infant. In practice, several drops of blood are obtained from the infant near the time of birth, placed on specific filter papers, and submitted to the laboratory for analysis. Thus, the simple availability of a blood spot is both the power and limitation behind newborn screening. The limitation is devising techniques for the detection of some disorders that may more easily be detected by using a different biologic specimen. Wilson and Junger (1968) outlined the principles that needed to be met to have a successful candidate for newborn screening. This was prepared as a statement of the World Health Organization (WHO).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
An, Y., Young, S.P., Hillman, S.L., Van Hove, J.L., Chen, Y.T., and Millington, D.S., 2000, Liquid chromatographic assay for a glucose tetrasaccharide, a putative bio-marker for the diagnosis of Pompe disease, Anal Biochem. 287:136.
Barton, N.W., Brady, R.O., Dambrosia, J.M., Di Bisceglie, A.M., Doppelt, S.H., Hill, S.C., Mankin, H.J., Murray, G.J., Parker, R.I., Argoff, C.E., et al., 1991, Replacement therapy for inherited enzyme deficiency—Macrophage-targeted glucocerebrosidase for Gaucher’s disease, N Engl J Med. 324:1464.
Chamoles, N.A., Blanco, M.B., Gaggioli, D., and Casentini, C., 2001, Hurler-like pheno-type: Enzymatic diagnosis in dried blood spots on filter paper, Clin Chem. 47:2098.
Chamoles, N.A., Blanco, M., Gaggioli, D., and Casentini, C., 2002a, Gaucher and Niemann-Pick diseases—Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards, Clin Chim Acta. 317:191.
Chamoles, N.A., Blanco, M., Gaggioli, D., and Casentini, C., 2002b, Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retro-spective diagnoses in newborn-screening cards, Clin Chim Acta. 318:133.
Chamoles, N.A., Niizawa, G., Blanco, M., Gaggioli, D., and Casentini, C., 2004, Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper, Clin Chim Acta. 347:97.
Eng, C.M., Guffon, N., Wilcox, W.R., Germain, D.P., Lee, P., Waldek, S., Caplan, L., Linthorst, G.E., and Desnick, R.J., 2001, Safety and efficacy of recombinant human alpha-galactosidase A—Replacement therapy in Fabry’s disease, N Engl J Med. 345:9.
Gerber, S.A., Scott, C.R., Turecek, F., and Gelb, M.H., 2001, Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ioni-zation mass spectrometry: Application to clinical enzymology, Anal Chem. 73:1651.
Hua, C.T., Hopwood, J.J., Carlsson, S.R., Harris, R.J., and Meikle, P.J., 1998, Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders, Clin Chem. 44:2094.
Krivit, W., Peters, C., and Shapiro, E.G., 1999, Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachro-matic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartyl-glucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III, 1999, Curr Opinion Neurol. 12:167.
Levy, H.L., and Albers, S., 2000, Genetic screening of newborns, Annu Rev Genomics Hum Genet. 1:139.
Li, Y., Scott, C.R., Chamoles, N.A., Ghavami, A., Pinto, B.M., Turecek, F., and Gelb, .H., 2004, Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening, Clin Chem. doi:10.1373/clinchem.2004.035907.
Meikle, P.J., and Hopwood, J.J., 2003, Lysosomal storage disorders: Emerging therapeutic options require early diagnosis, Eur J Pediatr. 162 Suppl 1:S34.
Meikle, P.J., Brooks, D.A., Ravenscroft, E.M., Yan, M., Williams, R.E., Jaunzems, A.E., Chataway, T.K., Karageorgos, L.E., Davey, R.C., Boulter, C.D., Carlsson, S.R., and Hopwood, J.J., 1997, Diagnosis of lysosomal storage disorders: Evaluation of lyso-some-associated membrane protein LAMP-1 as a diagnostic marker, Clin Chem. 43:1325.
Rozaklis, T., Ramsay, S.L., Whitfield, P.D., Ranieri, E., Hopwood, J.J., and Meikle, P.J., 2002, Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry, Clin Chem. 48:131.
Umapathysivam, K., Hopwood, J.J., and Meikle, P.J., 2001, Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease, Clin Chem. 47:1378.
Umapathysivam, K., Whittle, A.M., Ranieri, E., Bindloss, C., Ravenscroft, E.M., van Diggelen, O.P., Hopwood, J.J., and Meikle, P.J., 2000, Determination of acid alpha-glucosidase protein: Evaluation as a screening marker for Pompe disease and other lysosomal storage disorders, Clin Chem. 46:1318.
Wilcken, B., Wiley, V., Hammond, J., and Carpenter, K., 2003, Screening newborns for inborn errors of metabolism by tandem mass spectrometry, N Engl J Med. 348:2304.
Wilcox, W.R., Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G.E., Desnick, R.J., and Germain, D.P., 2004, Long-term safety and efficacy of enzyme replacement therapy for Fabry disease, Am J Hum Genet. 75:65.
Wilson, J., and Junger, G., 1968, The Principles and Practice of Screening for Disease, World Health Organization, Geneva.
Young, S.P., Stevens, R.D., An, Y., Chen, Y.T., and Millington, D.S., 2003, Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry, Anal Biochem. 316:175.
Zytkovicz, T.H., Fitzgerald, E.F., Marsden, D., 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.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2007 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Scott, C.R., Turecek, F., Gelb, M.H. (2007). Newborn Screening for Lysosomal Storage Disorders. In: Lysosomal Storage Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70909-3_12
Download citation
DOI: https://doi.org/10.1007/978-0-387-70909-3_12
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-387-70908-6
Online ISBN: 978-0-387-70909-3
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)