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> 疑难杂病 > 氨基酸与糖代谢病

苯丙酮尿症（PKU）——饮食管理与酶治疗

Time of release：2026-09-10 | Readings：0 次 | What’s the point?：氨基酸与糖代谢病

疾病概述

苯丙酮尿症是一种常染色体隐性遗传代谢病。上海儿童医学中心顾学范教授团队在该领域积累了丰富的管理经验。

平台可对接顾学范教授、罗小平教授等权威专家。

治疗与管理

PKU 治疗以低苯丙氨酸饮食为核心，辅以四氢生物蝶呤（BH4）或酶替代治疗。

平台服务

登录会员中心后由医疗顾问对接权威专家；支持远程预诊、来华面诊、全程翻译与陪护。

Rare & Complex Diseases 氨基酸与糖代谢病