Selection of Tissue for the Enzyme Assay

Summary

A large number of enzymes show tissue specificity; moreover, isozymic forms of enzymes occur which show either a unique tissue distribution or developmental dependency. In a few instances the expression of multiple forms of enzymes in tissues or cells produces more or less complex patterns. Thus it is not possible to select one particular tissue or cell type in which diagnoses can be proven or ruled out by enzymic investigations. However, general rules can be formulated and will be presented in this chapter. The reader is referred to the individual chapters and the references [1–5] for detailed information with regard to the tissue to be selected for the diagnosis of a particular inborn error of metabolism. The Directory published by the European Communities can be very helpful in this respect. It is updated yearly. [6]