營養素代謝和先天上代謝異常

NUTRIENT METABOLISM AND INBORN ERRORS

近二三十年來，由於很多整天埋頭苦幹的科學家們，在分子生物學，分子遺傳學及其相關之學科努力鑽研的結果，使得生化科學的進展真是一日千里，尤其是一些有關人類疾病方面的知識，更有相當令人激賞的成果。在這種科技發展幾達爆炸的時代裡，科學的進展所可能造成的一切，對我們都將有著相當深的影響；譬如目前醫師們對於治病的觀點，大致上已經有了很大的改變，最明顯的即是對於求診的病人，在徹底了解其病況後，便企圖找出從一正常的個體走上病變的過程（也就是所謂的病程，Disease processes）和正常情況的個體，二者之間在體內新陳代謝方面所表現出來之主要不同點何在。本文擬從新陳代謝的觀點，探討一些最近在分子生物學及其各相關學科的重要研究結果和體內各種代謝上之疾病間的相關性，並對一些人類新陳代謝方面之疾病以分子的層次（Molecular level）作一綜合性之介紹。

Traditionally, the 'Inborn Errors' of metabolism usually dealt with the concept that a genetic defect may cause a metabolic failure that creates a mutant phenotype. In fact, some deleterious mutations which exert their effects by interfering with a metabolic pathway were found elsewhere. Furthermore, in the recent decades, new information has emerged in the analysis of the complexity of these disease processes and their relationships to the regulation of cellular metabolism. Although the discussion of biomedical purposes of biochemical phenomena is always focused on the physiological significance, clinical relevance and also on the metabolic pathways as well as their control , the biological purpose in discussing the metabolism of a living body is found to shift to the collection of the relationship between every molecule as well as every reaction, including the reactions of the degradative and synthetic processes occurring within our bodies and its corresponding catalytic unit. This minireview tried to discuss the basic problems regarding the correlation between altered biochemical processes and illniss. It also intended to indicate the continuous advance biochemical concepts in connection the human diseases of genetic deficiency and their metabolic disturbances.