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高鸟氨酸血症-高氨血症-高瓜氨酸尿综合征

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

ORPHA:415疾病中国目录 第1批 · 48

定义 英文原文（暂无中文）

A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.

别名

鸟氨酸移位酶缺乏症

基本事实

遗传方式
常染色体隐性
发病年龄
青少年期、成年期、儿童期、婴儿期、新生儿期
患病率
<1 / 1 000 000（Europe）

相关基因 1

基因名称关联类型
SLC25A15solute carrier family 25 member 15Disease-causing germline mutation(s) (loss of function) in

临床表型 40

极常见 99–80%6

  • 瓜氨酸代谢异常 HP:0011965
  • 认知功能损害 HP:0100543
  • 高氨血症 HP:0001987
  • 高鸟氨酸血症 HP:0012026
  • 反射亢进 HP:0001347
  • 神经发育延迟 HP:0012758

常见 79–30%24

  • 锥体束征 HP:0007256
  • 急性脑病 HP:0006846
  • 大脑皮层萎缩 HP:0002120
  • 阵挛 HP:0002169
  • 意识模糊 HP:0001289
  • 肝功能下降 HP:0001410
  • 循环肝转氨酶水平升高 HP:0002910
  • 阵发性呕吐 HP:0002572
  • 发育迟滞 HP:0001508
  • 喂养困难 HP:0011968
  • 全身性肌张力减低 HP:0001290
  • 肝炎 HP:0012115
  • 肝脏肿大 HP:0002240
  • 振动觉异常 HP:0002495
  • 智力障碍 HP:0001249
  • 昏睡 HP:0001254
  • 乳清酸尿症 HP:0003218
  • 协调能力下降 HP:0002370
  • 进行性小脑共济失调 HP:0002073
  • 蛋白质回避 HP:0002038
  • 痉挛性截瘫 HP:0001258
  • 特定的学习障碍 HP:0001328
  • 失读症 HP:0011098
  • 呼吸过速 HP:0002789

偶见 29–5%7

  • 凝血因子级联反应异常 HP:0003256
  • 昏迷 HP:0001259
  • 全面性肌阵挛发作 HP:0002123
  • 多灶性脑白质异常 HP:0007052
  • 呼吸性碱中毒 HP:0001950
  • 癫痫发作 HP:0001250
  • 痉挛步态 HP:0002064

罕见 <4–1%3

  • 脉络膜视网膜萎缩 HP:0000533
  • 脉络膜视网膜色素沉着减退 HP:0040030
  • 肝功能衰竭 HP:0001399

近两年的全球研究 26L2

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。

  • 2026-07
    Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
    JPGN reports · DOI · Europe PMC
  • 2026-07开放获取
    Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland
    Journal of inherited metabolic disease · DOI · Europe PMC
  • 2026-05开放获取
    Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
    Journal of inherited metabolic disease · DOI · Europe PMC
  • 2026-04开放获取
    Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation
    Children (Basel, Switzerland) · DOI · Europe PMC
  • 2026-04综述开放获取
    From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family
    Protein science : a publication of the Protein Society · DOI · Europe PMC
  • 2026-03开放获取
    Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center
    Epilepsia open · DOI · Europe PMC
  • 2026-02病例报告开放获取
    Case Report: Neonatal-onset chylomicron retention disease presenting as isolated failure to thrive with compound heterozygous &lt;i&gt;SAR1B&lt;/i&gt; variants: the value of early genetic testing and challenges of long-term management
    Frontiers in pediatrics · DOI · Europe PMC
  • 2025-12开放获取
    Proteomic profiling reveals age-related changes in transporter proteins in the human blood-brain barrier
    Scientific reports · 被引 1 · DOI · Europe PMC
  • 2025-12开放获取
    Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience
    Journal of clinical medicine · DOI · Europe PMC
  • 2025-10开放获取
    Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2025-10病例报告开放获取
    Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    Cureus · DOI · Europe PMC
  • 2025-08开放获取
    Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2025-07综述开放获取
    Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease
    Metabolites · 被引 6 · DOI · Europe PMC
  • 2025-07
    The current social status in adult patients with urea cycle disorders in Japan
    Molecular genetics and metabolism · DOI · Europe PMC
  • 2025-05
    [Interpretation of the "Expert consensus on the diagnosis and treatment of neonatal hyperammonemia"]
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pedia · DOI · Europe PMC
  • 2025-04综述开放获取
    Arginase 1 deficiency: a treatable form of spastic paraplegia
    Neurological sciences : official journal of the Italian Neurological S · 被引 1 · DOI · Europe PMC
  • 2025-04综述开放获取
    Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    · Europe PMC
  • 2025-03开放获取
    Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry
    Nutrients · 被引 2 · DOI · Europe PMC
  • 2025-02
    Integrated analysis of the complete sequence of a macaque genome
    Nature · 被引 20 · DOI · Europe PMC
  • 2024-12开放获取
    Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
    International journal of neonatal screening · 被引 5 · DOI · Europe PMC

境外已获批用于本病的药物 1L2

欧盟 1 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。

已获孤儿药资格、尚未获批的在研药物（2 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。

  • heterologous human adult liver-derived progenitor cells欧盟2013-07-17
    Treatment of ornithine-translocase deficiency
    官方记录
  • Prohippur欧盟2016-08-29
    sodium benzoate
    Treatment of ornithine translocase 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。

中国境外的在招试验 1L2

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1

共 1 项。

  • 招募中NCT04602325
    Systemic Biomarkers of Brain Injury From Hyperammonemia
    观察性 · 2020/07/09Children's National Research Institute
    美国

外部标识与链接

OrphanetOMIM:238970MONDO:0009393GARD:2830ICD-10 E72.4ICD-11 5C50.AYClinicalTrials.gov 检索

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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）