患儿男性，8月，因反复抽搐发作，智力低下4月入院，系母乳喂养。查体：反应迟钝，表情呆滞，毛发呈黄褐色，皮肤白嫩，智力低下，前囟1．5cm×1．5cm，平软，颈软，心肺无异常，腹软，肝脾未扪及，布氏征（－）克氏征（－）。尿具霉臭样气味。
该患儿的诊断及确诊的实验室检查方法？
参考答案：
诊断：苯丙酮尿症。确诊检查：1．血浆奔丙氨酸浓度＞1．2mmol/L可确诊；2．血浆游离氨基酸和尿液有机酸分析，为本病提供生化诊断依据；3．尿蝶呤分析，可鉴别各型苯丙酮尿征。
A: Hello! May I speak to Sue, please? B: 1 . A: Oh, this is Jim speaking. Is that Mrs. Green? B: 2 . A: Mrs. Green, I have something to tell her. Can I leave a message（留口信）? B: 3 . A: Please tell her we are going to see our teachers tomorrow. B: 4 . A: We’ll meet at school at eight in the morning. B: 5 . A: No. That’s all. Thank you. B: You’re welcome.
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