各位亲,欢迎查看本贴内容,希望对您有帮助。
先说说我的情况:
1、新生儿第 3天:苯丙氨酸5.47(328),被通知复查;
2、新生儿第11天:苯丙氨酸7.06(424),被通知要去有资质的医院确诊;
3、新生儿第18天:到省妇幼检查,苯丙氨酸7.3(438);
4、新生儿第25天:做BH4负荷实验,8.5小时后苯丙氨酸从7.3(438)下降至3(180)。
诊断:BH4反应性高苯丙氨酸血症,现在正在吃能全特和母乳,控制苯丙氨酸摄入。
注意事项:1、当要抽血时,建议先喂点水给宝宝,避免血液粘稠抽不出来;
2、一定要重视苯丙氨酸超标,及早复查及确诊;
3、苯丙氨酸的单位换算率是60。
在这里,为什么是高苯丙氨酸血症而不是苯丙酮尿症,高苯丙氨酸血症≠经典型苯丙酮尿症≠恶性苯丙酮尿症,但三个都有一个共同原因,“苯丙氨酸”值超标。
所以各位亲,当“苯丙氨酸”超标,请不要过分的担心,坚持配合复查并确诊。
附上一份资料,转自:http://wenku.baidu.com/view/578ee4f7f61fb7360b4c6549.html
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先说说我的情况:
1、新生儿第 3天:苯丙氨酸5.47(328),被通知复查;
2、新生儿第11天:苯丙氨酸7.06(424),被通知要去有资质的医院确诊;
3、新生儿第18天:到省妇幼检查,苯丙氨酸7.3(438);
4、新生儿第25天:做BH4负荷实验,8.5小时后苯丙氨酸从7.3(438)下降至3(180)。
诊断:BH4反应性高苯丙氨酸血症,现在正在吃能全特和母乳,控制苯丙氨酸摄入。
注意事项:1、当要抽血时,建议先喂点水给宝宝,避免血液粘稠抽不出来;
2、一定要重视苯丙氨酸超标,及早复查及确诊;
3、苯丙氨酸的单位换算率是60。
在这里,为什么是高苯丙氨酸血症而不是苯丙酮尿症,高苯丙氨酸血症≠经典型苯丙酮尿症≠恶性苯丙酮尿症,但三个都有一个共同原因,“苯丙氨酸”值超标。
所以各位亲,当“苯丙氨酸”超标,请不要过分的担心,坚持配合复查并确诊。
附上一份资料,转自:http://wenku.baidu.com/view/578ee4f7f61fb7360b4c6549.html
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