Kwantifisering van urinêre organiese materiaal by die identifisering van aangebore metaboliese siekte-toestande

Abstract

Inherited metabolic diseases are the cause of 25 - 35% of infant deaths in industrialized countries. In order to facilitate the treatment and genetic counselling of these diseases, early diagnosis is imperative. The high costs of the cumbrous tests that are included in metabolic screening programmes, make them impractical for the handling of large numbers of specimens and also place them beyond the reach of most South Africans. Simple, first phase tests are important in the selection of patients that possibly have an inherited metabolic disease. One-dimensional thin-layer chromatography is used for the initial screening of amino acid defects, although it is not a fool-proof method, but a complete organic acid extraction and gas chromatographical analysis is necessary for organic acid screening. The CSIR agreed to make an apparatus available that they had developed for the analysis of organic water pollution and this seemed to offer a solution to the problem. Considering that urine is an aqueous solution and that patients that suffer from inherited metabolic diseases usually excrete greater amounts of metabolites in their urine, selection based on a greater organic content should be able to be made. In so doing, a large number of specimens with a lower organic content need not have to be tested. Control and patient groups will have to be compiled in order to standardise the method, which has not yet been applied to this situation. A complete evaluation must be carried out in order to decide if the method has enough merit to use in a metabolic screening programme.