Enzyme studies
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

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.

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