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https://hdl.handle.net/2440/67097
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DC Field | Value | Language |
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dc.contributor.author | Fuller, M. | - |
dc.contributor.author | Tucker, J. | - |
dc.contributor.author | Lang, D. | - |
dc.contributor.author | Dean, C. | - |
dc.contributor.author | Fietz, M. | - |
dc.contributor.author | Meikle, P. | - |
dc.contributor.author | Hopwood, J. | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | Journal of Medical Genetics, 2011; 48(6):422-425 | - |
dc.identifier.issn | 0022-2593 | - |
dc.identifier.issn | 1468-6244 | - |
dc.identifier.uri | http://hdl.handle.net/2440/67097 | - |
dc.description.abstract | Background: 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.statementofresponsibility | Maria Fuller, Justin N Tucker, Debbie L Lang, Caroline J Dean, Michael J Fietz, Peter J Meikle and John J Hopwood | - |
dc.language.iso | en | - |
dc.publisher | British Med Journal Publ Group | - |
dc.rights | Copyright status unknown | - |
dc.source.uri | http://dx.doi.org/10.1136/jmg.2010.088096 | - |
dc.subject | Humans | - |
dc.subject | Lysosomal Storage Diseases | - |
dc.subject | Iduronate Sulfatase | - |
dc.subject | alpha-Galactosidase | - |
dc.subject | Hexosaminidases | - |
dc.subject | Glycosaminoglycans | - |
dc.subject | Proteins | - |
dc.subject | Mass Screening | - |
dc.subject | Immunochemistry | - |
dc.subject | Sensitivity and Specificity | - |
dc.subject | Genetic Heterogeneity | - |
dc.subject | Mutation | - |
dc.subject | Child | - |
dc.subject | Infant, Newborn | - |
dc.subject | Australia | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Clinical Enzyme Tests | - |
dc.subject | High-Throughput Screening Assays | - |
dc.title | Screening patients referred to a metabolic clinic for lysosomal storage disorders | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1136/jmg.2010.088096 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Fuller, M. [0000-0001-9092-8942] | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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