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 272L2
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。
- 2026-08Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child
- 2026-07病例报告Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man
- 2026-07综述The Role of Urea Cycle Functional Studies in Preclinical Research
- 2026-07病例报告Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report
- 2026-06Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency
- 2026-06开放获取Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders
- 2026-06开放获取The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases
- 2026-06开放获取A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan
- 2026-06开放获取Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population
- 2026-05开放获取Safe and Early Primary Closure of Open Abdomen in Pediatric Liver Transplantation Using a Doppler-Guided Tension Relief Strategy and Enhanced Wound Environment
- 2026-05病例报告Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency
- 2026-05Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiency
- 2026-05开放获取Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study
- 2026-05综述开放获取Emerging Approaches for the Treatment of Metabolic Dysfunction-Associated Steatotic Liver Disease: The Application of Nanomedicines
- 2026-05开放获取Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021)
- 2026-05综述开放获取mRNA Lipid Nanoparticles for Cell Engineering in Vivo and in Vitro: Current Applications and Future Directions
- 2026-05开放获取Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category
- 2026-05病例报告开放获取Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients
- 2026-04综述开放获取Recent Developments in Lipid Nanoparticle-Mediated Delivery of Biotherapeutics and Gene Therapy Across the Blood-Brain Barrier
- 2026-04开放获取Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study
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。
已获孤儿药资格、尚未获批的在研药物（16 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。
- 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 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 12L2
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5英国4加拿大1澳大利亚1西班牙1
CT.gov 报告命中 12 项，此处取回并展示最近的 11 项。
- 尚未开始招募NCT06735638Outside the Cage (OTC) Robotic Esophagectomy加拿大
- 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
- 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）