论文部分内容阅读
近年来,广泛深入研究遗传性酶病,发现了很多种这类疾病,以致使诊断变得极为复杂。在不久以前,酶病的诊断仍以临床、遗传和临床生化检查资料为基础,然后查明病变组织中酶(或其某一型)的缺乏。但不同实验室所得的资料表明,这些检查虽属必要,然而在很多情况下仍嫌不足,因为病理过程可能由影响催化作用的某些因素的缺乏而并非由酶缺乏所致。在此情况下,有时找不到生化障碍的原因,可是实际上病人体内不能发生这种酶促反应。例如,新发现的某些酶病,其病因即是缺乏特异的激活剂或抑制剂或底物的载体(特异的透酶或移位酶)。
In recent years, extensive and in-depth studies on hereditary enzyme diseases have found many kinds of such diseases so that the diagnosis becomes extremely complicated. Not long ago, the diagnosis of enzyme disease is still based on clinical, genetic and clinical biochemical examination data, and then identify the lack of enzyme (or some type) in the lesion. However, data from different laboratories indicate that these tests, although necessary, are not sufficient in many cases because the pathological process may be due to lack of certain factors that affect the catalysis and not to enzyme deficiency. In this case, the cause of biochemical disorder is sometimes not found, but in fact, the enzyme can not occur in the patient’s body. For example, some of the newly discovered enzyme diseases, the etiology of which is the lack of specific activators or inhibitors or substrates of the carrier (specific enzymes or translocase).