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Clinical Chemistry 44: 2094-2102, 1998;
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(Clinical Chemistry. 1998;44:2094-2102.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders

Chi T. Hua1,2, John J. Hopwood1, Sven R. Carlsson3, Ray J. Harris2, and Peter J. Meikle1,a

1 Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia.

2 School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia 5000, Australia.

3 Department of Medical Biochemistry and Biophysics, Umea University, Umea S-901 87, Sweden.
a Author for correspondence. Fax 618-204-7100; e-mail pmeikle{at}medicine.adelaide.edu.au.

For 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 ~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.




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