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Newborn screening for lysosomal storage disorders
Peter J Meikle1, Dallas J Grasby, Caroline J Dean
1Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children Youth and Women's Health Service, North Adelaide, South Australia 5006, Australia. peter.meikle@adelaide.edu.au
Insights
Newborn screening for lysosomal storage disorders (LSD) is now achievable using a multiplexed immune-quantification assay. This method identifies affected infants early, enabling timely intervention and improved patient outcomes.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lysosomal storage disorders (LSDs) are chronic, progressive genetic diseases with significant patient and family impact.
- Early childhood symptoms develop, often after irreversible pathology, highlighting the need for early detection.
- Current therapeutic options focus on improving quality of life, underscoring the importance of timely diagnosis.
Purpose of the Study:
- To develop and evaluate a multiplexed immune-quantification assay for identifying individuals with LSDs.
- To assess the assay's efficacy in a retrospective study using blood spots from newborns and diagnosed patients.
- To determine the feasibility of incorporating this assay into newborn screening programs.
Main Methods:
- Development of a multiplexed immune-quantification assay measuring 11 different lysosomal proteins.
- Retrospective analysis of blood spots from newborns diagnosed with LSDs, post-diagnosis patients, and control groups.
- Comparison of lysosomal protein levels against established control ranges.
Main Results:
- The assay successfully identified patients with various LSDs, including MPS I, MPS II, MPS IIIA, MPS VI, metachromatic leukodystrophy, Niemann-Pick disease A/B, and multiple sulfatase deficiency via reduced enzyme levels.
- Mucolipidosis type II/III patients were identified by elevated lysosomal enzyme levels.
- Fabry, Pompe, and Gaucher disease patients were often identified through single protein differences or combined marker profiles.
Conclusions:
- Multiplexed immune-quantification of lysosomal proteins is a viable method for newborn screening of multiple LSDs.
- This assay shows potential for early identification of LSDs, facilitating improved patient management and family counseling.
- Further validation could lead to integration into existing newborn screening laboratories, significantly impacting patient care.
Abstract:
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most patients are clinically normal at birth but develop symptoms early in childhood. Despite no curative treatment, a number of therapeutic options are available to improve quality of life. To achieve this, there is a pressing need for newborn screening to identify affected individuals early, before the onset of severe irreversible pathology. We have developed a multiplexed immune-quantification assay of 11 different lysosomal proteins for the identification of individuals with an LSD and evaluated this assay in a retrospective study using blood-spots from; newborns subsequently diagnosed with an LSD (n=19, six different LSD), individuals sampled after diagnosis of an LSD (n=92, 11 different LSD), newborn controls (n=433), and adult controls (n=200). All patients with mucopolysaccharidosis type I (MPS I), MPS II, MPS IIIA, MPS VI, metachromatic leukodystrophy, Niemann-Pick disease type A/B, and multiple sulfatase deficiency could be identified by reduced enzyme levels compared to controls. All mucolipidosis type II/III patients were identified by the elevation of several lysosomal enzymes, above the control range. Most Fabry, Pompe, and Gaucher disease patients were identified from either single protein differences or profiles of multiple protein markers. Newborn screening for multiple LSD is achievable using multiplexed immune-quantification of a panel of lysosomal proteins. With further validation, this method could be readily incorporated into existing screening laboratories and will have a substantial impact on patient management and counseling of families.
