精氨酸血症
Argininemia
定义 英文原文（暂无中文）
A rare autosomal recessive amino acid metabolism disorder characterized by variable degrees of hyperammonemia leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
别名
精氨酸酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000（Finland）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ARG1 | arginase 1 | Disease-causing germline mutation(s) in |
临床表型 10
极常见 99–80%5
- 异常言语模式 HP:0002167
- 非典型行为 HP:0000708
- 双氨基酸尿 HP:0008339
- 全面发育迟缓 HP:0001263
- 重度智力障碍 HP:0010864
常见 79–30%5
- 脑电图异常 HP:0002353
- 偏瘫/轻偏瘫 HP:0004374
- 高氨血症 HP:0001987
- 进行性痉挛性四肢瘫 HP:0002478
- 癫痫发作 HP:0001250
近两年的全球研究 74L2
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。
- 2026-09开放获取Urinary metabolomics may improve prediction of overall survival beyond tumor stage in colorectal cancer: results from the ColoCare study
- 2026-09开放获取Integrative multi-omics analysis reveals lipid/metabolite dysregulation and temporal decoupling in disease progression
- 2026-08开放获取The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
- 2026-08开放获取Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy
- 2026-08综述Pegzilarginase (Loargys): Indication: Treatment of hyperargininemia in adults and pediatric patients aged 2 years and older with arginase 1 deficiency, in conjunction with dietary protein restriction: Reimbursement Recommendation
- 2026-07First Single-Center Experience of Minimally Invasive Pediatric Living Donor Liver Transplantation in China
- 2026-07开放获取Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland
- 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Arginase Deficiency
- 2026-06开放获取Pancreatic islet α cell function and proliferation require the arginine transporter SLC7A2
- 2026-06综述开放获取L-Citrulline in Maternal-Fetal and Neonatal Health: Metabolic Mechanisms and Emerging Therapeutic Applications
- 2026-06开放获取Characterization of blood-brain barrier L-arginine uptake using in situ brain perfusions in a female mouse model
- 2026-06开放获取A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population
- 2026-05开放获取Differential Expression and Function of Arginase in Mouse Uterus During Early Pregnancy
- 2026-04开放获取Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation
- 2026-04开放获取Extracellular Vesicles Delivered a Functional ARG1 Enzyme and Restored Its Activity in a Mouse Model of ARG1-D Resulting in Improved Lifespan
- 2026-04开放获取Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry?
- 2026-03开放获取Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation
- 2026-03开放获取Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
- 2026-03开放获取Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris
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（5 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2010-12-17human heterologous liver cellsTreatment of hyperargininaemia官方记录
- heterologous human adult liver-derived progenitor cells欧盟2013-07-17Treatment of hyperargininaemia官方记录
- sodium benzoate欧盟2016-01-11Treatment of hyperargininaemia官方记录
- sodium benzoate;sodium phenylacetate欧盟2019-06-28Treatment of hyperargininaemia官方记录
- adeno-associated vector expressing human codon-optimized arginase 1 un美国2024-11-12treatment of arginase 1 deficiency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 1L2
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。
当前没有检索到登记为可入组的试验。
其他状态的试验（1 项）
- 已完成NCT06683820Triple Recipient Strategy Using Split, Domino, and Auxiliary Techniques中国研究中心 1 个：Hangzhou
中国境外的在招试验 5L2
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。
共 5 项。
- 尚未开始招募NCT07773246Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD澳大利亚
- 招募中NCT07573059Evaluation of the Safety of Loargys Arginine Test System in Loargys-treated Patients美国
- 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NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford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）