Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7132
Type: | Journal article |
Title: | Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker |
Author: | Meikle, P. Brooks, D. Ravenscroft, E. Yan, M. Williams, R. Jaunzems, A. Chataway, T. Karageorgos, L. Davey, R. Boulter, C. Carlsson, S. Hopwood, J. |
Citation: | Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, 1997; 43(8):1325-1335 |
Publisher: | American Association for Clinical Chemistry |
Issue Date: | 1997 |
ISSN: | 0009-9147 1530-8561 |
Statement of Responsibility: | Peter J. Meikle, Doug A. Brooks, Elaine M. Ravenscroft, Miao Yan, Ruth E. Williams, Alvis E. Jaunzems, Timothy K. Chataway, Litsa E. Karageorgos, Richard C. Davey, Christine D. Boulter, Sven R. Carlsson, and John J. Hopwood |
Abstract: | Early diagnosis of lysosomal storage disorders (LSDs), before the onset of irreversible pathologies, will be a key factor in the development of effective therapies for many of these disorders. Newborn screening offers a potential mechanism for the early detection of these disorders. From studies of both normal and LSD-affected human skin fibroblasts we identified the lysosome-associated membrane protein LAMP-1 as a potential diagnostic marker. We have developed a sensitive method for the quantification of this protein with a time-resolved fluorescence immunoassay. A soluble form of LAMP-1 was observed in plasma samples, and determination of 152 unaffected individuals gave a median value of 303 micrograms/L with the 5th and 95th percentile at 175 and 448 micrograms/L respectively. Plasma samples from 320 LSD-affected individuals representing 25 different disorders were assayed. We observed that 17 of the 25 disorder groups tested had > 88% of individuals above the 95th percentile of the control population, with 12 groups having 100% above the 95th percentile. Overall, 72% of patients had LAMP-1 concentrations above the 95th percentile of the unpartitioned control population. We suggest that LAMP-1 may be a useful marker in newborn screening for LSDs. |
Keywords: | blood spot; Guthrie card; skin fibroblast; time-resolved fluorescence immunoassay |
Rights: | COPYRIGHT 1997 American Association for Clinical Chemistry, Inc. |
Published version: | http://clinchem.aaccjnls.org/content/43/8/1325 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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