鸟氨酸氨甲酰转移酶缺乏症
Ornithine transcarbamylase deficiency
定义 英文原文（暂无中文）
A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.
别名
鸟氨酸氨基甲酰转移酶缺乏症
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| OTC | ornithine transcarbamylase | Disease-causing germline mutation(s) in |
临床表型 29
极常见 99–80%5
- 氨基酸尿 HP:0003355
- 肝功能衰竭 HP:0001399
- 高氨血症 HP:0001987
- 低血糖 HP:0001943
- 脾肿大 HP:0001744
常见 79–30%15
- 厌食症 HP:0002039
- 昏迷 HP:0001259
- 困倦 HP:0002329
- 循环肝转氨酶水平升高 HP:0002910
- 脑病 HP:0001298
- 低精氨酸血症 HP:0005961
- 低体温 HP:0002045
- 肌张力减退 HP:0001252
- 昏睡 HP:0001254
- 低血浆瓜氨酸 HP:0003572
- 乳清酸尿症 HP:0003218
- 吸吮无力 HP:0002033
- 蛋白质回避 HP:0002038
- 呼吸性碱中毒 HP:0001950
- 癫痫发作 HP:0001250
偶见 29–5%9
- 焦虑 HP:0000739
- 注意力缺陷多动障碍 HP:0007018
- 高结合胆红素血症 HP:0002908
- 谵妄 HP:0031258
- 抑郁 HP:0000716
- 阵发性呕吐 HP:0002572
- 发育迟滞 HP:0001508
- 部分凝血活酶时间延长 HP:0003645
- 特定的学习障碍 HP:0001328
近两年的全球研究 288L2
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。
- 2026-11开放获取Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
- 2026-10开放获取Small populations, big impact: leveraging rare disease gene therapies to benefit millions
- 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
- 2026-09综述开放获取Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review
- 2026-09病例报告开放获取Recurrent acute liver failure in infancy - a novel <i>SCYL1</i> mutation: A case report
- 2026-09综述A brief history of gene therapy for ornithine transcarbamylase deficiency
- 2026-09Fulminant hyperammonemia during intensive chemotherapy in the setting of previously unrecognized partial ornithine transcarbamylase deficiency
- 2026-09The fluctuating Connectome: Graph-Theoretical dissection of metabolic mimicry in Late-Onset ornithine transcarbamylase deficiency
- 2026-09Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects
- 2026-09Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition
- 2026-08开放获取Elucidate the structural role of helper lipids in modulating hepatic expression following repeated intravenous administration of mRNA-LNPs
- 2026-08开放获取The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
- 2026-08综述开放获取Transplantation as disease modifying therapy in the era of gene therapy medicinal products - health policy considerations
- 2026-08病例报告开放获取Severe Nonhepatic Hyperammonemia Associated With Ureaplasma parvum and Mycoplasma hominis Infection in a Dually Immunosuppressed Woman Presenting As Suspected Peritoneal Carcinomatosis
- 2026-08综述开放获取Tissue factor and regenerative medicine: shaping cell and extracellular vesicle-based therapeutic approaches
- 2026-08病例报告Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child
- 2026-07综述开放获取Two Classes of Protein Therapeutics: Why Dose-Response Architecture Defines the Boundary of mRNA Medicines
- 2026-07综述开放获取A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China
- 2026-07开放获取Clinical benefit, price and epidemiology of orphan drugs approved in China: a cross-sectional analysis of orphan drug policy (ODP) in China
- 2026-07综述开放获取Application of CRISPR-Cas9-Based Gene Editing Technology in Inherited Liver Diseases
境外已获批用于本病的药物 2L2
欧盟 1 项、美国 1 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。
尚未获批的在研药物（16 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- Heparesc欧盟2007-09-14human heterologous liver cellsTreatment of ornithine-transcarbamylase deficiency官方记录
- heterologous human adult liver-derived stem cells欧盟2011-09-27Treatment of ornithine transcarbamylase deficiency官方记录
- adeno-associated viral vector serotype 8 encoding human ornithine tran欧盟2016-03-21Treatment of ornithine transcarbamylase deficiency官方记录
- Prohippur欧盟2016-07-14sodium benzoateTreatment of ornithine transcarbamylase deficiency官方记录
- Adeno-associated viral vector serotype LK03 encoding human ornithine t欧盟2017-03-20Treatment of ornithine transcarbamylase deficiency官方记录
- modified messenger ribonucleic acid encoding human ornithine transcarb欧盟2017-04-20Treatment of ornithine transcarbamylase deficiency官方记录
- sodium benzoate;sodium phenylacetate欧盟2019-04-24Treatment of ornithine transcarbamylase deficiency官方记录
- mRNA encoding modified human ornithine transcarbamylase欧盟2022-07-18Treatment of ornithine transcarbamylase deficiency官方记录
- adeno-associated virus serotype rh79 containing the human OTC gene, ad欧盟2022-12-09Treatment of ornithine transcarbamylase deficiency官方记录
- recombinant adeno-associated virus serotype AAV8 vector encoding human美国2015-12-29Treatment of ornithine transcarbamylase deficiency官方记录
- mRNA encoding human ornithine transcarbamylase美国2016-11-23Treatment of ornithine transcarbamylase deficiency官方记录
- Ornithine transcarbamylase messenger RNA美国2019-06-26Treatment of Ornithine Transcarbamylase Deficiency官方记录
- L-Citrulline美国2020-11-03Treatment of Ornithine Transcarbamylase deficiency官方记录
- non-replicating recombinant adeno-associated virus serotype rh79 (AAVr美国2022-09-01Treatment of Ornithine Transcarbamylase Deficiency官方记录
- A replication-deficient adeno-associated virus serotype 9 vector conta美国2023-07-24Treatment of ornithine transcarbamylase deficiency官方记录
- adeno-associated viral vector serotype LK03 containing the human ornit美国2023-08-08Treatment of Ornithine Transcarbamylase Deficiency (OTCD)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 2L2
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 1
- 招募中NCT04573660Abbott Vascular Medical Device Registry中国研究中心 3 个：Jinhua、Ningbo、Xi'an
其他状态的试验（1 项）
- 已完成NCT01663896Observational Study of OCT in a Patients Undergoing FFR中国研究中心 1 个：Hong Kong
中国境外的在招试验 13L2
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6英国4澳大利亚2加拿大1西班牙1
CT.gov 报告命中 13 项，此处取回并展示最近的 12 项。
- 尚未开始招募NCT06735638Outside the Cage (OTC) Robotic Esophagectomy加拿大
- 尚未开始招募NCT07773246Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD澳大利亚
- 尚未开始招募NCT07241845Epiretinal Membrane in Patients With DR.
- 尚未开始招募NCT06743906Role of OCT & OCT Angiography in Patients With Posterior at the Uveitis Clinic of Assiut University Hospital.
- 招募中NCT06805695Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)英国、美国
- 招募中NCT06488313A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD美国
- 招募中NCT06255782An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency澳大利亚、西班牙、英国、美国
- 招募中NCT05092685Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn英国
- 招募中NCT04908319Hepatic Histopathology in Urea Cycle Disorders美国
- 招募中NCT04602325Systemic Biomarkers of Brain Injury From Hyperammonemia美国
- 招募中NCT05299710Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal)美国
- 招募中NCT02132741Optical Coherence Tomography And NEphropathy: The OCTANE Study英国
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）