【摘要】 对病理性氨基酸尿症的病因进行了综合性分析,特别是遗传因素造成的氨基酸代谢缺陷。临床上已分为二十多种类型。因参与氨基酸代谢的某些酶缺陷引起代谢物在血液中异常增高,使尿中排泄增多,由于代谢异常引起婴幼儿发育严重障碍,甚至有种种神经系统及重要脏器功能紊乱的表现以至于早年夭折。如苯丙酮酸尿症。有些虽无明显症状,仅在进食有代谢缺陷的氨基酸丰富的食品,才会出现明显症状,限制饮食即可减轻,要到青壮年后才发病,对患者健康的威胁也不明显,易被忽视。目前对该病的预防治疗已引起广泛的关注。更多还原

【Abstract】 This article focuses on synthetic analysis of the causes of physiological ammonia urine symptoms, especially, ammonia acid metabolic shortage caused by hereditary factors. Physiological acid ammonia acid urine symptoms can be subdivided into more than 20 kinds of types. Short of enzyme that is involved in ammonia acid heredity will lead to the increase of metabolism in the blood and more frequency of urine drains. Due to hereditary abnormality, the growth of infants may be deadly influenced, in some cases, it may also result in children’ nervous systems as well as some important visceral disorder and even to death . Some symptoms may be rather wild, for example, allyl benzene ketone acid urine symptom. They only occur when infants take in food lacking of ammonia acid. The symptom may be reduced if food tempted whereas the diseases may probably occur when the infants grow up, which are not serious to the body, Therefore, this symptom ear easily be ignored However, the prevention and treatment of physiological ammonia acid urine symptoms have drawn wide attention.更多还原