Diagnosis of LSDs typically involves several steps:
1. Clinical Evaluation: Initial assessment based on clinical symptoms and family history. 2. Enzyme Assays: Measuring the activity of specific lysosomal enzymes in blood, tissue, or fibroblasts. 3. Genetic Testing: Identifying mutations in the genes encoding lysosomal enzymes. 4. Histological Examination: Biopsy samples may be examined histologically to identify characteristic cellular changes.
