White blood cell (leucocyte) enzyme assays are an important part of the investigation of potential metabolic disorders, in particular, lysosomal storage disorders. It is imperative that appropriate tests are selected, and that knowledge of the limitations of these assays is applied to avoid erroneous conclusions about confirmation or exclusion of diagnoses.
- Leucocyte enzyme assay.
- Inherited metabolic disease
- Lysosomal storage disorders
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Competing interests None declared.
Provenance and peer review Commissioned; externally peer reviewed.