Diagnosis of LSDs involves a combination of clinical evaluation, family history, and specialized laboratory tests. Histologically, the accumulation of substrates in cells can be observed using various staining techniques. For example:
- Periodic acid-Schiff (PAS) stain can highlight accumulated glycogen. - Oil Red O stain can detect lipid accumulations. - Electron microscopy can reveal characteristic inclusions within lysosomes.
Enzyme assays and genetic testing are essential to confirm the diagnosis and identify the specific mutation involved.
