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Immunochemistry of lysosomal storage disorders.
Emma Parkinson-Lawrence1, Maria Fuller, John J Hopwood
1Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women's Health Service, North Adelaide, South Australia, Australia.
Clinical Chemistry
|July 15, 2006
Summary
Immunochemical assays aid in early detection, diagnosis, and prognosis of lysosomal storage disorders. Multiplexing these immune assays could enable newborn screening for multiple disorders.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Lysosomal storage disorders (LSDs) are genetic diseases with variable clinical presentations.
- Immunochemical analysis of patient samples is crucial for LSD management, including early detection, severity prediction, therapy selection, and monitoring.
Purpose of the Study:
- To review current and emerging technologies for immunochemical analysis of LSD patient samples.
- To highlight the role of these techniques in patient management.
Main Methods:
- Review of existing and novel immunochemical technologies.
- Analysis of their application in lysosomal storage disorder diagnostics and prognostics.
Main Results:
- Immune assays are directly applicable for early detection, diagnosis, and prognosis of LSD patients.
- Multiplexing immune assays offers a potential platform for newborn screening of multiple LSDs.
Conclusions:
- Immunochemical techniques are valuable tools for analyzing LSD patient samples.
- These techniques, combined with other technologies, can enhance effective patient management.