N-乙酰谷氨酸合成酶缺乏所致高氨血症

定义 英文原文（暂无中文）

A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.

别名

NAGS缺乏症

基本事实

遗传方式

常染色体隐性

发病年龄

各年龄段

患病率

<1 / 1 000 000（Europe）

相关基因 1

临床表型 42

近两年的全球研究 22L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。本病的检索词较宽泛，命中数可能偏高，请以标题为准。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 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
  International journal of neonatal screening · 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综述
  The role of real-world data and real-world evidence in advancing regulatory science and targeted therapeutics: a narrative review from the United States perspective
  Personalized medicine · 被引 1 · DOI · Europe PMC
• 2026-03病例报告开放获取
  Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine
  BMC pediatrics · DOI · Europe PMC
• 2025-12综述开放获取
  Expert consensus on the combined screening of genes and biomarkers for neonatal diseases
  World journal of pediatrics : WJP · DOI · Europe PMC
• 2025-12病例报告开放获取
  Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report
  BMC pediatrics · DOI · Europe PMC
• 2025-12病例报告开放获取
  Case Report: Carglumic acid accelerates ammonia clearance in a neonate with methylmalonic acidemia
  Frontiers in pediatrics · DOI · Europe PMC
• 2025-09综述
  Current Treatment Modalities for Urea Cycle Disorders
  Paediatric drugs · 被引 1 · DOI · Europe PMC
• 2025-08开放获取
  Reforming China's Rare Disease Security System: Risk Management Perspectives and a Dedicated Insurance Innovation
  Healthcare (Basel, Switzerland) · 被引 2 · 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
  Urea Cycle Disorders Overview
  · Europe PMC
• 2025-06
  Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders
  Molecular genetics and metabolism · 被引 1 · DOI · Europe PMC
• 2025-05
  Data-driven consideration of genetic disorders for global genomic newborn screening programs
  Genetics in medicine : official journal of the American College of Med · 被引 29 · DOI · Europe PMC
• 2025-03开放获取
  Specific drugs for rare diseases in a province of eastern China under catalog management: from 2021 to 2023
  Frontiers in pharmacology · DOI · 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
• 2025-03开放获取
  Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals
  Orphanet journal of rare diseases · 被引 2 · DOI · Europe PMC
• 2025-03开放获取
  Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2025-02病例报告开放获取
  Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study
  Molecular genetics and metabolism reports · DOI · Europe PMC
• 2025-02开放获取
  Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control
  Molecular therapy. Nucleic acids · 被引 3 · DOI · Europe PMC
• 2025-02开放获取
  Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan
  The Kobe journal of medical sciences · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

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。

外部标识与链接