Lysosomal storage disease (LSD)
Lysosomal storage disease (LSD) screening with SEEKER® Lysosomal storage diseases (LSDs) are inherited disorders caused by a deficiency of specific enzymes responsible for breaking down lipids and sugars. The toxic build-up of these substances can affect multiple organs, including the brain, heart and nervous system.
The SEEKER LSD Reagent Kit enables the quantitative measurement of 4 lysosomal enzymes from a single Dried Blood Spot (DBS), allowing the detection of
- Mucopolysaccharidosis type I (MPS I)
- Pompe disease
- Gaucher disease
- Fabry disease
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