瓜氨酸血症
Citrullinemia
定义 英文原文（暂无中文）
Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 成年期、新生儿期
相关基因 2来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ASS1 | argininosuccinate synthase 1 | ORPHA:247546 |
| SLC25A13 | solute carrier family 25 member 13 | ORPHA:247598 |
近两年的全球研究 233L2
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。
- 2026-07Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
- 2026-07Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study
- 2026-07Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency
- 2026-06开放获取Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry
- 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Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I
- 2026-06开放获取A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population
- 2026-06病例报告开放获取A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report
- 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
- 2026-06An amperometric l-citrulline biosensor
- 2026-06Sudden Acute Liver Failure in Citrullinemia Type 1: An Argument for Earlier Liver Transplantation?
- 2026-06Abstract
- 2026-05开放获取Application of tandem mass spectrometry for blood acylcarnitine and amino acid profiling in differentiating etiologies of neonatal cholestasis
- 2026-05Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes
- 2026-05开放获取Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes
- 2026-05病例报告开放获取Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report
- 2026-05综述开放获取Aspartate-Glutamate Carrier 1 (<i>SLC25A12</i>) Deficiency: Malate-Aspartate Shuttle Failure, Neurodevelopmental Epileptic Encephalopathy, and Ketone-Based Metabolic Therapy
- 2026-05综述开放获取Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction
- 2026-05RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I
- 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
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。
- Ammonaps欧盟1999-12-07sodium phenylbutyrate官方记录
- Ucephan美国1987-12-23Benzoate and phenylacetate该药获批用于瓜氨酸血症I型——本病种下的一个亚型官方记录
已获孤儿药资格、尚未获批的在研药物（5 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2009-10-08human heterologous liver cells该药获批用于瓜氨酸血症I型——本病种下的一个亚型Treatment of citrullinaemia type 1官方记录
- Glyceryl tri-(4-phenylbutyrate)欧盟2010-06-10该药获批用于瓜氨酸血症II型——本病种下的一个亚型Treatment of citrullinaemia type 2官方记录
- heterologous human adult liver-derived progenitor cells欧盟2013-07-17该药获批用于瓜氨酸血症I型——本病种下的一个亚型Treatment of citrullinaemia type 1官方记录
- Prohippur欧盟2016-07-14sodium benzoate该药获批用于瓜氨酸血症I型——本病种下的一个亚型Treatment of citrullinaemia type 1官方记录
- sodium phenylacetate;sodium benzoate欧盟2019-05-29该药获批用于瓜氨酸血症I型——本病种下的一个亚型Treatment of citrullinaemia type 1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 2L2
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 2 项。
- 招募中NCT04908319Hepatic Histopathology in Urea Cycle Disorders美国
- 招募中NCT04602325Systemic Biomarkers of Brain Injury From Hyperammonemia美国
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）