The final diagnosis of many neurometabolic disorders depends on the
ability to demonstrate a specific enzyme deficiency responsible for the
disease. Prenatal diagnosis, in particular, requires access to specific
enzyme assay in cases in which the diagnosis of the disease under
investigation is established. Enzyme analysis can also be used for the
detection of carriers. [Table 8]
shows a summary of the enzyme defects in lysosomal storage disorders
and the most accessible source of enzymes for diagnostic analysis.
Although fibroblasts are considered the most optimal material for the
diagnosis of lysosomal disorders, analysis of the enzyme deficiencies
in leukocytes are equally reliable in most cases.