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在1974年以前,对苯酮尿(PKU)的化验、诊断和治疗方法似乎都已解决。只是缺少宫内诊断方法。自记述了几个致死性高苯丙氨酸血症(LHPA)的患者后,开始认识到需要有一种方法,在新生儿期就能识别这些病人,然后对这种危险疾病可采取有效的治疗措施,尤其有把握地采用饮食疗法治疗未死的97—99％的苯酮尿病人。早已明确,致死性高苯丙氨酸血症有不同的性质,必须试行几种途径的诊断。看来,每个病人都应做肝穿刺活检,测定苯丙氨酸羟化酶(PH)和二氢蝶啶还原酶(DHPR)。为了找到一个较少损伤的方法,曾尝试服用四氢生物蝶呤(totrahy-
Until 1974, the test, diagnosis and treatment of phenylketonuria (PKU) seemed to have been resolved. Just missing the method of intrauterine diagnosis. Having described a few patients with lethal hyperphenylalaninemia (LHPA), they began to recognize the need for a way to identify these patients during the neonatal period before taking effective treatment for this dangerous disease Measure, especially with certainty, diet therapy to treat 97-99% of patients without phenylketonuria who have died. It has long been clear that fatal hyperphenylalaninemia has different properties and must be tested in several ways. It appears that each patient should undergo a liver biopsy to determine phenylalanine hydroxylase (PH) and dihydropteridine reductase (DHPR). In order to find a less damaging approach, attempts have been made to take totrahy-