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苯病酮症(PKU)是患者肝中缺乏苯丙氨酸羟化酶,使苯丙氨酸不能转化成酪氨酸,只能转变为苯丙酮酸,致使大量苯丙酮酸在血中堆积,并且从尿中排出的一种先天代谢异常疾病.发病率为0.5～1/10,000. 本病表现:皮肤及毛发颜色变浅,体臭、皮炎、湿疹、多汗、瞳孔散大、步态不稳,以致发展为幼儿痴呆. 如已发现症状再开始治疗,智力难以恢复正常,故早期诊断非常重要.Guthrie氏微生物半定量法(此
Benzene ketosis (PKU) is the lack of phenylalanine hydroxylase in patients with liver, phenylalanine can not be converted to tyrosine, can only be converted to phenylpyruvate, resulting in a large accumulation of phenylpyruvate in the blood, And excreted from the urine of a congenital metabolic disorders. The incidence rate of 0.5 ~ 1 / 10,000. The performance of the disease: the skin and hair color lighter, body odor, dermatitis, eczema, sweating, mydriasis, unstable gait , Resulting in the development of children with dementia.If you have found symptoms and then start treatment, intelligence is difficult to return to normal, so early diagnosis is very important.Guthrie’s microbial semi-quantitative method