苯丙酮尿症

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。

临床表型 25

近两年的全球研究 1,718L2

2024/10 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。

• 2026-10
  Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria
  JAMA network open · DOI · Europe PMC
• 2026-09
  Engineered Escherichia coli Nissle with an inducible phenylalanine degrading cassette and a multi-input kill switch
  New biotechnology · DOI · Europe PMC
• 2026-09综述开放获取
  Continuous Molecular Monitoring Using Electrochemical Aptamer-Based Sensors: Remaining Challenges for Long-Term In Vivo Deployment
  Advanced science (Weinheim, Baden-Wurttemberg, Germany) · DOI · Europe PMC
• 2026-09
  A pioneering transition program for adults with phenylketonuria - initial findings from a single-center one-year experience from Poland
  Clinics (Sao Paulo, Brazil) · DOI · Europe PMC
• 2026-09综述开放获取
  Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases
  Health science reports · DOI · Europe PMC
• 2026-09开放获取
  The Impact of Prescription Barriers to Special Low Protein Foods and Protein Substitutes on PKU Care: Findings from a National Survey of Metabolic Dietitians
  Nutrients · DOI · Europe PMC
• 2026-09开放获取
  Identifying Barriers in the Prescription Pathway of Special Low-Protein Foods and Protein Substitutes for People with PKU in the UK: An Industry Perspective
  Nutrients · DOI · Europe PMC
• 2026-09
  Correction: Sepiapterin: A Distinct, Dual Mechanism of Action that Leads to Potential Treatment Benefits Across the Spectrum of Phenylketonuria Disease Severities
  Advances in therapy · DOI · Europe PMC
• 2026-09开放获取
  Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria
  Molecular genetics and metabolism reports · DOI · Europe PMC
• 2026-09系统综述综述开放获取
  Prime Editing for Precision Genetic Medicine: A Systematic Review of Technologies, Delivery, and Therapeutic Applications
  Genes · DOI · Europe PMC
• 2026-09
  Chimeric structural isomer fragments as cost-efficient internal standards for amino acid quantification by mass spectrometry
  Analytical methods : advancing methods and applications · DOI · Europe PMC
• 2026-09开放获取
  Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study
  Nutrients · DOI · Europe PMC
• 2026-09开放获取
  Construction of a self-amplifying mRNA-LNP complex for phenylalanine hydroxylase and its efficacy evaluation in gene therapy for phenylketonuria
  iScience · DOI · Europe PMC
• 2026-09综述开放获取
  Gut-on-Chip Models for Host-Microbiome Studies: A Systematic Review
  Microorganisms · DOI · Europe PMC
• 2026-09综述开放获取
  Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09开放获取
  Population-Specific Carrier Frequencies in an Underrepresented Genetically Heterogeneous Population: Implications for Expanded Carrier Screening
  Genes · DOI · Europe PMC
• 2026-09综述
  Mechanisms of Aging in Phenylketonuria (PKU)
  American journal of medical genetics. Part A · DOI · Europe PMC
• 2026-09综述开放获取
  The cost-benefit of newborn screening for X-linked agammaglobulinemia and related B-cell lymphopenia
  Immunologic research · DOI · Europe PMC
• 2026-09
  Dietary supplement practices in children with inherited metabolic disorders receiving protein-restricted diets
  Clinical nutrition ESPEN · DOI · Europe PMC
• 2026-09综述开放获取
  High-Content CRISPR Screening: Methods and Applications
  MedComm · DOI · Europe PMC

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。

• Kuvan欧盟2008-12-02
  sapropterin
  官方记录
• Palynziq欧盟2019-05-03
  pegvaliase
  官方记录
• Sephience欧盟2025-06-19
  sepiapterin
  官方记录

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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NCT06687733
  Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria
  I 期、II 期 · 干预性 · 2024/07/16NGGT (Suzhou) Biotechnology Co., Ltd.
  中国研究中心 2 个：Bengbu、Shanghai
• 招募中NCT07672756
  A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)
  I 期 · 干预性 · 2025/07/20Chongqing Peg-Bio Biopharm Co., Ltd.
  中国研究中心 1 个：Hefei
• 招募中NCT07685210
  GenSci144 Tablets Phase I Clinical Trial
  I 期 · 干预性 · 2026/06/22Changchun GeneScience Pharmaceutical Co., Ltd.
  中国研究中心 1 个：Jinan
• 尚未开始招募NCT07318909
  To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria
  早期 I 期 · 干预性 · 2027/12/31Gritgen Therapeutics Co., Ltd.
  中国研究中心 1 个：Hefei

中国境外的在招试验 35L2

CT.gov 报告命中 35 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07802366
  Acceptability and Tolerance Market Research of a Slow Release, Phenylalanine-free Protein Substitute for the Dietary Management of Phenylketonuria
  不适用 · 干预性 · 2026/10/01metaX Institut fuer Diatetik GmbH
  英国
• 招募中NCT07825883
  The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
  不适用 · 干预性 · 2026/09/11Michał Kania
  波兰
• 招募中NCT07551921
  PheCheck™ Validation Study
  观察性 · 2026/08/20Aptatek BioSciences, Inc
  美国
• 招募中NCT07713758
  A 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
  I 期 · 干预性 · 2026/07/17Otsuka Pharmaceutical Development & Commercialization, Inc.
  美国
• 尚未开始招募NCT07671859
  PKU Microtablets Case Studies
  不适用 · 干预性 · 2026/07/01Nutricia UK Ltd
  英国
• 招募中NCT07694440
  A Study of MZE782 in Adults With PKU
  II 期 · 干预性 · 2026/06/23Maze Therapeutics
  美国
• 招募中NCT07477691
  Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
  IV 期 · 干预性 · 2026/05/29BioMarin Pharmaceutical
  美国
• 招募中NCT07241234
  A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
  I 期 · 干预性 · 2026/04/17Agios Pharmaceuticals, Inc.
  波兰、美国
• 招募中NCT07446400
  A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together
  I 期 · 干预性 · 2026/03/31Otsuka Pharmaceutical Development & Commercialization, Inc.
  澳大利亚
• 招募中NCT07484945
  Multiomics Approach in Adult Patients With Phenylketonuria
  观察性 · 2026/03/23University Hospital, Tours
  法国
• 尚未开始招募NCT07406009
  The Psychosocial Functioning of Adults With Phenylketonuria.
  观察性 · 2026/01/15Central Hospital, Nancy, France
• 招募中NCT07220265
  Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
  不适用 · 干预性 · 2025/12/19University of Missouri-Columbia
  美国
• 招募中NCT07698743
  Eating Disorders in Patients With Phenylketonuria
  观察性 · 2025/12/04Central Hospital, Nancy, France
  法国
• 招募中NCT06971731
  A Study of JNT-517 in Participants With Phenylketonuria (PKU)
  III 期 · 干预性 · 2025/10/20Otsuka Pharmaceutical Development & Commercialization, Inc.
  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NCT07728032
  Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
  观察性 · 2025/10/01Birmingham Women's and Children's NHS Foundation Trust
  英国

外部标识与链接