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自从1953年Bickel倡用饮食治疗苯丙酮尿症(PKU)以来,极大多数早期得到诊断的患儿得以健康成长。治疗的成功促使了1961年PKU新生儿筛查的出现。至今新生儿期PKU的筛查已在许多国家中开展,由此而得到早期诊断和早期治疗的人也越来越多,同时在该病治疗方面已积累了不少经验。经典型PKU患者肝脏苯丙氨酸羟化酶严重缺乏,从而导致血中苯丙氨酸(Phe)、苯丙酮酸及其他苯环化合物的大量堆积,使脑组织
Since Bickel’s diet-based treatment of phenylketonuria (PKU) in 1953, most early diagnosed children have developed healthily. The success of the treatment prompted the 1961 PKU neonatal screening. Up to now, the screening of neonatal PKU has been carried out in many countries. As a result, more and more people are getting early diagnosis and early treatment, and a lot of experience has been accumulated in the treatment of this disease. A severe deficiency of the liver phenylalanine hydroxylase in classical PKU patients results in the massive accumulation of Phe, phenylpyruvate and other benzene ring compounds in the blood,