Hua, C.Hopwood, J.Carlsson, S.Harris, R.Meikle, P.2006-06-232006-06-231998Clinical Chemistry, 1998; 44(10):2094-21020009-91471530-8561http://hdl.handle.net/2440/7131For many lysosomal storage disorders, presymptomatic detection, before the onset of irreversible pathology, will greatly improve the efficacy of current and proposed therapies. In the absence of a family history, presymptomatic detection can be achieved only by a comprehensive newborn screening program. Recently we reported that the lysosome-associated membrane protein LAMP-1 was increased in the plasma from approximately 70% of individuals with lysosomal storage disorders. Here we report on the evaluation of a second lysosome-associated membrane protein, LAMP-2, as a marker for this group of disorders. The median concentration of LAMP-2 in the plasma of healthy individuals was 1.21 mg/L, fourfold higher than the median LAMP-1 concentration (0.31 mg/L). LAMP-2 was increased in >66% of patients with lysosomal storage disorders, and the increases coincided with increased LAMP-1 concentrations. The reference intervals for LAMP-1 and LAMP-2 in blood spots taken from newborns were 0.20-0.54 mg/L (n = 1600) and 0.95-3.06 mg/L (n = 1600), respectively. A high correlation was observed between the concentrations of LAMP-1 and LAMP-2 in both control and affected individuals. The higher concentrations of LAMP-2, relative to LAMP-1, in plasma make LAMP-2 an attractive marker; however, the final selection will be dependent on the availability of new diagnostic markers and their ability to detect disorders currently not identified by LAMP-2.enLysosomesHumansLysosomal Storage DiseasesMembrane GlycoproteinsAntigens, CDImmunoassayBlood Specimen CollectionElectrophoresis, Polyacrylamide GelReference ValuesAdolescentAdultAgedMiddle AgedChildChild, PreschoolInfantInfant, NewbornAustraliaBiomarkersLysosomal Membrane ProteinsJournal article0030005690001998095110.1093/clinchem/44.10.20940000761962000052-s2.0-003169093669696