高苯丙氨酸血症综合征的诊断及治疗现状

• 作 者: Matauo N 杨思凤
• 出 处: 临床荟萃
• 发表日期: 1989年01期
• 关键词: 高苯丙氨酸血症 苯丙酮 二氢蝶啶还原酶 生物蝶呤 病理生理 新蝶呤 苯氨酸 酶缺乏 冶疗 羟化酶

自Folling首次报道典型的苯丙酮尿(PKU)的50多年来,在研究苯丙氨酸代谢的生理和病理生理上已有很大进展。特别是对新生儿苯丙酮尿的普查,使人们认识到高苯丙氨酸综合征的临床和生化的异质性。本文目的是回顾高苯丙氨酸综合征的病因、诊断和治疗方面的新进展。

For the first time since Folling has reported typical phenylketoneuria (PKU) for more than 50 years, great progress has been made in the study of the physiological and pathophysiological aspects of phenylalanine metabolism. In particular, the census of phenylketonuria in neonates has led to the recognition of the clinical and biochemical heterogeneity of hyperphenylalanine syndrome. This article aims to review the etiology, diagnosis and treatment of hyperphenylalanine syndrome.