本文目录一览:
- 1、高苯丙氨酸血症
- 2、高苯丙氨酸血症是一种什么病
- 3、高苯丙氨酸血症该如何治疗
- 4、苯丙氨酸血症这种病是不是和父母有关
高苯丙氨酸血症
可以诊断苯丙酮尿症,但因为是轻度,所以不用治疗,以后不要再咨询了,把我们的时间留给其他患者
回复专家:上海新华医院-小儿内科-韩连书主任医师
高苯丙氨酸血症是一种什么病
分析:根据您的描述,可考虑为苯丙酮尿症。
建议:孩子血苯丙氨酸增高,是苯丙酮尿症的诊断依据。这是一种遗传性代谢缺陷病,不是染色体疾病。儿童患者可出现先天性痴呆。
高苯丙氨酸血症该如何治疗
高苯丙氨酸血症是常染色体隐性遗传。目前的治疗建议通过饮食治疗(应以淀粉类、蔬菜、水果等低蛋白食物为主)将苯丙氨酸的浓度控制在<6mg/dl。除了饮食治疗,在出生早期开始用左旋多巴,碳化多巴,5-OH色氨酸以及四氢生物蝶呤替代治疗也有一定作用。若已经出现神经系统症状后恢复的可能性较小。目前朝阳医院应用基因工程乳酸菌治疗苯丙酮尿症已取得专利。
苯丙氨酸血症这种病是不是和父母有关
苯丙氨酸血症一种先天性氨基酸代谢障碍,以苯丙氨酸羟化酶活性缺乏,致血浆苯丙氨酸浓度升高为特征,常造成严重智能迟缓。 轻度和重度型的高苯丙氨酸血症是常染色体隐性遗传。
此种遗传病父母双方均为致病基因携带者,故多见于血缘关系较近的婚配者子女。
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