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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
Statement of
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
RMID: 0020109165
DOI: 10.1136/jmg.2010.088096
Appears in Collections:Paediatrics publications

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