Screening patients referred to a metabolic clinic for lysosomal storage disorders

Simple item page
dc.contributor.authorFuller, M.
dc.contributor.authorTucker, J.
dc.contributor.authorLang, D.
dc.contributor.authorDean, C.
dc.contributor.authorFietz, M.
dc.contributor.authorMeikle, P.
dc.contributor.authorHopwood, J.
dc.date.issued2011
dc.description.abstractBackground: Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). Design: 1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. Results: All patients with Pompe disease, metachromatic leukodystrophy, and mucopolysaccharidosis (MPS) type I, IIIA, IIIB and VI were identified by reduced lysosomal protein. Five samples were identified as possible pseudo-arylsulfatase A deficiency; four were confirmed. One multiple sulfatase deficiency patient was identified with multiple reduced sulfatase proteins. There were 10 MPS II patients identified with reduced iduronate 2-sulfatase, and one MPS II patient with iduronate 2-sulfatase in the unaffected range. For Fabry disease, 10 male patients were identified with reduced α-galactosidase and 2/6 female Fabry heterozygotes returned α-galactosidase concentrations in the male Fabry range. All 10 mucolipidosis II/III patients were identified with multiple raised proteins. For 79 blood spots with chitotriosidase >3.4 mg/l, a follow-up one-plex chitotriosidase assay enabled identification of all nine Gaucher patients. Conclusion: This study demonstrates the sensitivity and specificity of this technology to accurately identify 99% of LSD patients, with the exception of one MPS II false negative.
dc.description.statementofresponsibilityMaria Fuller, Justin N Tucker, Debbie L Lang, Caroline J Dean, Michael J Fietz, Peter J Meikle and John J Hopwood
dc.identifier.citationJournal of Medical Genetics, 2011; 48(6):422-425
dc.identifier.doi10.1136/jmg.2010.088096
dc.identifier.issn0022-2593
dc.identifier.issn1468-6244
dc.identifier.orcidFuller, M. [0000-0001-9092-8942]
dc.identifier.urihttp://hdl.handle.net/2440/67097
dc.language.isoen
dc.publisherBritish Med Journal Publ Group
dc.rightsCopyright status unknown
dc.source.urihttps://doi.org/10.1136/jmg.2010.088096
dc.subjectHumans
dc.subjectLysosomal Storage Diseases
dc.subjectIduronate Sulfatase
dc.subjectalpha-Galactosidase
dc.subjectHexosaminidases
dc.subjectGlycosaminoglycans
dc.subjectProteins
dc.subjectMass Screening
dc.subjectImmunochemistry
dc.subjectSensitivity and Specificity
dc.subjectGenetic Heterogeneity
dc.subjectMutation
dc.subjectChild
dc.subjectInfant, Newborn
dc.subjectAustralia
dc.subjectFemale
dc.subjectMale
dc.subjectClinical Enzyme Tests
dc.subjectHigh-Throughput Screening Assays
dc.titleScreening patients referred to a metabolic clinic for lysosomal storage disorders
dc.typeJournal article
pubs.publication-statusPublished

Files

Collections

Paediatrics publications