Inborn Errors of Metabolism

Abstract

TWO DECADES of extraordinary progress in biochemistry have wrought a permanent change in the laboratory examination of the processes of health and disease. Twenty years ago the separation and quantitation of blood proteins was a complex procedure restricted to a research activity in a few institutions. Today-paper, gel, or column protein fractionation is completed in a short time and on a routine basis. Clinical enzymology has advanced from the examination of a limited number of clinically useful correlations to today’s powerful tool for the localization of tissue and organ damage, for the prediction of clinical remission or exacerbation, or for the measure of the patient’s response to therapy. Flame photometry, fluorescence, phosphorescence, radioisotope methodology, and all the other developing technics for the identification and measurement of the inexhaustible array of physiologic constituents move from research to routine application with bewildering speed. Possibly as a result of the availability of new tools and methods there has been an equally explosive growth in our understanding of metabolic disease. This symposium conducted by several of the leading authorities in the field, provides a unique unified survey of that category of disease many years ago appropriately entitled “inborn errors of metabolism.” It requires only a modest gift of prophecy to foretell that the time period will be brief between the presentation of these exciting studies and the demand that the technics and measurements be routinely available for diagnosis and therapy. The symposium presented here“Inborn Errors of etabolism”-could be repeated in context for many other subjects in clinical biochemistry. The clinical chemist is challenged to fully participate in these advances as a research partner, and further, to translate these efforts into practical application in the medical environment.