1. Overview of Lysosomal Enzyme Deficiencies
- Lysosomal enzyme activity can be assessed in:
- Serum or plasma
- Leukocytes (white cell pellet)
- Cultured fibroblasts
2. Pseudodeficiency in Lysosomal Storage Diseases
- Enzyme levels in the heterozygous range may not correlate with disease due to high heterozygosity prevalence in the general population.
