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https://hdl.handle.net/2440/67097
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Type: | Journal article |
Title: | Screening patients referred to a metabolic clinic for lysosomal storage disorders |
Author: | Fuller, M. Tucker, J. Lang, D. Dean, C. Fietz, M. Meikle, P. Hopwood, J. |
Citation: | Journal of Medical Genetics, 2011; 48(6):422-425 |
Publisher: | British Med Journal Publ Group |
Issue Date: | 2011 |
ISSN: | 0022-2593 1468-6244 |
Statement of Responsibility: | Maria Fuller, Justin N Tucker, Debbie L Lang, Caroline J Dean, Michael J Fietz, Peter J Meikle and John J Hopwood |
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. |
Keywords: | Humans Lysosomal Storage Diseases Iduronate Sulfatase alpha-Galactosidase Hexosaminidases Glycosaminoglycans Proteins Mass Screening Immunochemistry Sensitivity and Specificity Genetic Heterogeneity Mutation Child Infant, Newborn Australia Female Male Clinical Enzyme Tests High-Throughput Screening Assays |
Rights: | Copyright status unknown |
DOI: | 10.1136/jmg.2010.088096 |
Published version: | http://dx.doi.org/10.1136/jmg.2010.088096 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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