Immunochemistry of Lysosomal Storage Disorders
- 1 September 2006
- journal article
- review article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 52 (9), 1660-1668
- https://doi.org/10.1373/clinchem.2005.064915
Abstract
Background: Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of clinical severity, determining the most appropriate therapeutic regimen, and monitoring of patients on therapy. Methods: In this study, we review the current and emerging technology available to achieve these assessments. Results: Immune assays have direct practical application for the early detection, diagnosis and prognosis of lysosomal storage disorder patients. Multiplexing of these assays may provide a platform to allow newborn screening for multiple lysosomal storage disorders. Conclusions: We have reviewed the immunochemical techniques available for the analysis of lysosomal storage disorder patient samples and advise that these may be used in conjunction with other technologies for effective patient management.Keywords
Funding Information
- National Health and Medical Research Council
This publication has 65 references indexed in Scilit:
- Newborn screening for lysosomal storage disordersMolecular Genetics and Metabolism, 2006
- AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosisMolecular Therapy, 2005
- Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfateJournal of Human Genetics, 2004
- Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)The Journal of Pediatrics, 2004
- Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)The Journal of Pediatrics, 2004
- α-l-Iduronidase Premature Stop Codons and Potential Read-Through in Mucopolysaccharidosis Type I PatientsJournal of Molecular Biology, 2004
- Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase proteinBiochemical Medicine and Metabolic Biology, 1992
- Review: The immunochemical analysis of enzyme from mucopolysaccharidoses patientsJournal of Inherited Metabolic Disease, 1992
- Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's DiseaseThe New England Journal of Medicine, 1991
- Immunoquantification of the low abundance lysosomal enzymeN‐acetylgalactosamine 4‐sulphataseJournal of Inherited Metabolic Disease, 1989