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1病例患儿,女,藏族,4岁,初诊时头发黄色无光泽,皮肤白暂,有轻度湿疹,智力发育严重障碍,言语发育严重滞后,步态不稳,肌张力稍高,注意力不太集中,身上及尿液有强烈鼠臭味。尿液三氯化铁试验呈强阳性。患儿无同胞兄妹,其父母身体健康,均无遗传病史。留取患儿及父母血液,分别测定血苯丙氨酸浓度,患儿为1294.7μmol/L,父亲、母亲分别为139.2μmol/L、119.2μmol/L。采用快
1 case of children, girls, Tibetan, 4 years old, first diagnosis of hair yellow dull, white skin temporarily, mild eczema, mental retardation, severe speech development lag, unstable gait, slightly higher muscle tone, attention Not too concentrated, body and urine have a strong smell of rats. Urine ferric chloride test was strongly positive. Children without siblings siblings, their parents healthy, no genetic history. Blood samples were taken from children and their parents. Blood phenylalanine concentration was determined. The average plasma phenylalanine concentration was 1294.7μmol / L in children and 139.2μmol / L in fathers and 119.2μmol / L in mothers. Fast