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.

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  Information

  Published:08 December 2024 Last Updated:10 December 2024