Newborn screening for lysosomal storage disorders

Simple item page
dc.contributor.authorMeikle, P.
dc.contributor.authorGrasby, D.
dc.contributor.authorDean, C.
dc.contributor.authorLang, D.
dc.contributor.authorBockmann, M.
dc.contributor.authorWhittle, A.
dc.contributor.authorFietz, M.
dc.contributor.authorSimonsen, H.
dc.contributor.authorFuller, M.
dc.contributor.authorBrooks, D.
dc.contributor.authorHopwood, J.
dc.date.issued2006
dc.description.abstractLysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most patients are clinically normal at birth but develop symptoms early in childhood. Despite no curative treatment, a number of therapeutic options are available to improve quality of life. To achieve this, there is a pressing need for newborn screening to identify affected individuals early, before the onset of severe irreversible pathology. We have developed a multiplexed immune-quantification assay of 11 different lysosomal proteins for the identification of individuals with an LSD and evaluated this assay in a retrospective study using blood-spots from; newborns subsequently diagnosed with an LSD (n=19, six different LSD), individuals sampled after diagnosis of an LSD (n=92, 11 different LSD), newborn controls (n=433), and adult controls (n=200). All patients with mucopolysaccharidosis type I (MPS I), MPS II, MPS IIIA, MPS VI, metachromatic leukodystrophy, Niemann-Pick disease type A/B, and multiple sulfatase deficiency could be identified by reduced enzyme levels compared to controls. All mucolipidosis type II/III patients were identified by the elevation of several lysosomal enzymes, above the control range. Most Fabry, Pompe, and Gaucher disease patients were identified from either single protein differences or profiles of multiple protein markers. Newborn screening for multiple LSD is achievable using multiplexed immune-quantification of a panel of lysosomal proteins. With further validation, this method could be readily incorporated into existing screening laboratories and will have a substantial impact on patient management and counseling of families.
dc.description.statementofresponsibilityPeter J. Meikle, Dallas J. Grasby, Caroline J. Dean, Debbie L. Lang, Michelle Bockmann, Alison M. Whittle, Michael J. Fietz, Henrik Simonsen, Maria Fuller, Douglas A. Brooks and John J. Hopwood
dc.identifier.citationMolecular Genetics and Metabolism, 2006; 88(4):307-314
dc.identifier.doi10.1016/j.ymgme.2006.02.013
dc.identifier.issn1096-7192
dc.identifier.issn1096-7206
dc.identifier.orcidBockmann, M. [0000-0001-8050-0993]
dc.identifier.orcidFuller, M. [0000-0001-9092-8942]
dc.identifier.orcidBrooks, D. [0000-0001-9098-3626]
dc.identifier.urihttp://hdl.handle.net/2440/24072
dc.language.isoen
dc.publisherAcademic Press Inc Elsevier Science
dc.rightsCopyright © 2006 Elsevier Inc. All rights reserved.
dc.source.urihttps://doi.org/10.1016/j.ymgme.2006.02.013
dc.subjectmucopolysaccharidosis
dc.subjectFabry disease
dc.subjectGaucher disease
dc.subjectPompe disease
dc.subjectmultiplex immune-quantification assay
dc.subjectdried blood-spot
dc.subjectdiagnosis
dc.titleNewborn screening for lysosomal storage disorders
dc.typeJournal article
pubs.publication-statusPublished

Files

Collections

Molecular and Biomedical Science publications