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某种酶由于遗传的或者后天发生的障碍,不能很好地发挥其功能时,机体内的物质代谢发生障碍,不能产生某些代谢产物,因而发生疾病;或者是代谢前阶段物质积蓄,从而导致疾病的发生。这样的疾病称为酶障碍。酶的数量很多,所以,酶障碍有多种,而且表现为多种多样的症状。酶障碍不是一种疾病,但也不是贫血或高尿酸血症那样的综合征。它包括了所有已知的由于酶障碍而引起的很多种类的代谢病。例如糖分解酶之一的丙酮酸激酶的遗传障碍溶血性贫血;嘌呤代谢系统酶之一的次黄嘌呤鸟嘌呤磷酸核糖转移酶(HPRT)的遗传障碍,可呈现高尿酸血症和称为自损行为的精神神经症状,发生叫做莱—奈二氏综合征的疾病;腺苷脱氨酶的遗传障碍,引
Some enzymes due to genetic or acquired obstacles, can not properly play its function, the body’s metabolism of substances obstacles, can not produce certain metabolites, thus the occurrence of disease; or pre-metabolism phase material savings, resulting in The occurrence of the disease. Such diseases are called enzyme disorders. A large number of enzymes, so there are a variety of enzyme disorders, but also showed a wide range of symptoms. Enzyme disorders are not a disease but are not syndromes such as anemia or hyperuricemia. It includes all the known types of metabolic diseases caused by enzyme disorders. Genetic disorders such as pyruvate kinase, one of the glycogenolytic enzymes, hemolytic anemia; Genetic disorders of hypoxanthine guanine phosphoribosyltransferase (HPRT), one of the enzymes of the purine metabolic system, may manifest hyperuricemia and may be referred to as Detrimental behavior of neuropsychiatric symptoms, the occurrence of a disease known as Lyne-Chennai Syndrome; genetic disorders of adenosine deaminase, cited