| Summary: | 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. === Thesis (MSc (Biochemie))--PU vir CHO, 1994.
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