Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses.

Abstract

There are two good reasons for introducing simple ultra-micro enzyme assays into clinical work: one is the frequent sparsity of the materials available for diagnostic procedures; the other is the restricted availability and the high costs of natural substrates. Microchemical methods of limited sensitivity have been successfully introduced into practical clinical work by Mattenheimer (10). Ultramicrochemistry, which has been defined as the measurement of substrates or of enzyme activites in volumes of less than 10 μ1, has, on the other hand, not been widely employed by clinicians; this is probably due to the fact that the only practical ultra-microtechnique, Lowry’s enzymatic cycling method (9), is too involved to be used in the daily routine.