Diagnosis of lysosomal storage disorders: Evaluation of lysosome- associated membrane protein LAMP-I as a diagnostic marker

P. J. Meikle, D. A. Brooxs, E. M. Ravenscroft, M. Yan, Ruth E. Williams, A. E. Jaunzems, Timothy K. Chataway, L. E. Karageorgos, Richard C. Davey, C. D. Boulter, S. R. Carlsson, J. J. Hopwood

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77 Citations (Scopus)

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 μg/L with the 5th and 95th percentile at 175 and 448 μg/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.

Original languageEnglish
Pages (from-to)1325-1335
Number of pages11
JournalClinical Chemistry
Volume43
Issue number8
DOIs
Publication statusPublished - 19 Aug 1997
Externally publishedYes

Keywords

  • Blood spot
  • Guthrie card
  • Skin fibroblast
  • Time-resolved fluorescence immunoassay

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