苯丙酮尿症
Phenylketonuria
定义 英文原文（暂无中文）
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.
别名
苯丙氨酸羟化酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- 1-9 / 100 000（France）
相关基因 1来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| PAH | phenylalanine hydroxylase | ORPHA:2209 |
临床表型 25
极常见 99–80%1
- 苯丙氨酸尿症 HP:0032351
常见 79–30%14
- 脑白质形态异常 HP:0002500
- 非典型行为 HP:0000708
- 脑电图异常 HP:0002353
- 湿疹样皮炎 HP:0000964
- 全面发育迟缓 HP:0001263
- 生长延迟 HP:0001510
- 高苯丙氨酸血症 HP:0004923
- 皮肤色素减退 HP:0001010
- 重度智力障碍 HP:0010864
- 小头畸形 HP:0000252
- 霉味 HP:0410021
- 骨质减少 HP:0000938
- 癫痫发作 HP:0001250
- 特定的学习障碍 HP:0001328
偶见 29–5%10
- 心血管系统形态异常 HP:0030680
- 焦虑 HP:0000739
- 共济失调 HP:0001251
- 大脑皮质型视觉障碍 HP:0100704
- 痴呆 HP:0000726
- 抑郁 HP:0000716
- 脑病 HP:0001298
- 下肢痉挛 HP:0002061
- 注意力短暂 HP:0000736
- 震颤 HP:0001337
近两年的全球研究 1,623L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-09综述Behavioral Phenotyping of the Pah<sup>enu2</sup> Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives
- 2026-08Modulation of phenylalanine assembly kinetics by gallic acid and its therapeutic implications in phenylketonuria (PKU)
- 2026-08综述Sapropterin (BH4) challenge in phenylketonuria: Responder or non-responder?
- 2026-08Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?
- 2026-08Bioinformatic Insights into AuNP-Directed Enzyme Orientation for Enhanced Phenylalanine Electrochemical Biosensing
- 2026-07Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening
- 2026-07European PKU guidelines at a glance: infographics summarising key recommendations
- 2026-07Use of a Slow-Release Phenylalanine-Free Microtablet Protein Substitute in Children and Adolescents with Phenylketonuria: An Observational Pilot Study
- 2026-07Minicells derived from <i>Escherichia coli</i> Nissle 1917 for efficient phenylalanine degradation
- 2026-07Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study
- 2026-07Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review
- 2026-07病例报告Extravascular Implantable Cardioverter-Defibrillator Therapy for Malignant Ventricular Arrhythmias in a Child with Congenital Long QT Syndrome: A Case Report
- 2026-07Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions
- 2026-07综述Nutritional and metabolic management of phenylketonuria: Integrating dietary strategies, medical nutrition therapy, and emerging treatments
- 2026-07综述Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies
- 2026-07Genetic landscape of phenylketonuria in Brazil
- 2026-07Phenylalanine Transport through LAT1: Insights from Molecular Dynamics, Steered Molecular Dynamics, and Targeted Molecular Dynamics
- 2026-07Genotype-Phenotype Relationships in Phenylalanine Hydroxylase Deficiency: Functional Annotation-Enhanced Analysis of 23,427 Individuals
- 2026-07Bulbar "Red Flag" Symptoms and a 21-Year Diagnostic Delay in Adult Arnold-Chiari Type II Malformation With Tracheoesophageal Fistula and Syringomyelia: A Case Report
- 2026-07Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria?
境外已获批用于本病的药物 3L2
欧盟 3 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Kuvan欧盟2008-12-02sapropterin官方记录
- Palynziq欧盟2019-05-03pegvaliase官方记录
- Sephience欧盟2025-06-19sepiapterin官方记录
已获孤儿药资格、尚未获批的在研药物（11 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- a strain of modified live probiotic bacterium Escherichia coli (E.coli美国2017-10-18Treatment of phenylketonuria (PKU)官方记录
- recombinant lentivirus vector expressing the human phenylalanine hydro美国2018-10-15Treatment of Phenylketonuria官方记录
- adeno-associated virus vector encoding human phenylalanine hydroxylase美国2019-10-21Treatment of phenylketonuria官方记录
- L-serine, L-threonine, L-leucine, glycine, L-alanine, L-arginine, L-cy美国2020-03-23Treatment of phenylketonuria官方记录
- recombinant adeno-associated virus serotype 8 vector encoding human ph美国2023-01-09Treatment of Phenylketonuria (PKU)官方记录
- a phenylalanine consuming engineered bacteria美国2023-05-08Treatment of Phenylketonuria (PKU)官方记录
- Adeno-associated virus (AAV)-based vector with an engineered capsid se美国2023-09-08Treatment of phenylketonuria (PKU)官方记录
- Small molecule chaperone to stabilize and rescue the activity of dysfu美国2023-12-27Treatment of Phenylketonuria官方记录
- (R)-3-(1-cyclopropyl-3-(2-fluoro-4-(trifluoromethoxy)benzyl)ureido)pip美国2024-04-24treatment of phenylketonuria官方记录
- An in vivo target-primed reverse transcription genome editing product 美国2024-10-09Treatment of phenylketonuria官方记录
- recombinant adeno-associated virus serotype 8-based gene therapy that 美国2025-12-13treatment of phenylketonuria官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 7L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 4
- 招募中NCT06687733Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria中国研究中心 2 个：Bengbu、Shanghai
- 招募中NCT07672756A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)中国研究中心 1 个：Hefei
- 尚未开始招募NCT07318909To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria中国研究中心 1 个：Hefei
- 招募中NCT07685210GenSci144 Tablets Phase I Clinical Trial中国研究中心 1 个：Jinan
其他状态的试验（3 项）
- 已完成NCT03864029Retrospective Observational Safety Effectiveness With Kuvan in hpA中国研究中心 1 个：Chengdu
- 进行中·不再招募NCT06061614Safety and Efficacy Study of NGGT002 in PKU Adult Subjects中国研究中心 1 个：Bengbu
- 已完成NCT05948020Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria中国研究中心 1 个：Shanghai
中国境外的在招试验 35L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国15法国5英国4澳大利亚4波兰3德国3加拿大2瑞士2意大利2捷克1日本1荷兰1西班牙1土耳其1另有 4 个国家/地区
CT.gov 报告命中 35 项，此处取回并展示最近的 15 项。
- 招募中NCT07713758A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function美国
- 尚未开始招募NCT07671859PKU Microtablets Case Studies英国
- 招募中NCT07694440A Study of MZE782 in Adults With PKU美国
- 招募中NCT07477691Immune Modulation During Palynziq® Treatment in Adults (IMPALA)美国
- 尚未开始招募NCT07551921PheCheck™ Validation Study
- 招募中NCT07241234A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria波兰、美国
- 招募中NCT07446400A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together澳大利亚
- 招募中NCT07484945Multiomics Approach in Adult Patients With Phenylketonuria法国
- 尚未开始招募NCT07406009The Psychosocial Functioning of Adults With Phenylketonuria.
- 招募中NCT07220265Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers美国
- 招募中NCT07698743Eating Disorders in Patients With Phenylketonuria法国
- 招募中NCT06971731A Study of JNT-517 in Participants With Phenylketonuria (PKU)澳大利亚、加拿大、捷克、法国、德国、日本、荷兰、波兰 等 10 国
- 招募中NCT07526909Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises土耳其
- 招募中NCT07728032Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU英国
- 招募中NCT06628128A Long-Term Study of JNT-517 in Participants With Phenylketonuria澳大利亚、美国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）