瓜氨酸血症

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。

近两年的全球研究 246L2

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
  Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency
  Clinical case reports
• 2026-09综述开放获取
  Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases
  Health science reports · DOI · Europe PMC
• 2026-09
  FGF21 elevation is a biomarker of citrin deficiency and its metabolic dysregulation in pediatric patients
  Molecular genetics and metabolism · DOI · Europe PMC
• 2026-09开放获取
  Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study
  Nutrients · DOI · Europe PMC
• 2026-09开放获取
  Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye
  Molecular genetics and metabolism reports · DOI · Europe PMC
• 2026-09
  Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition
  Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  FoxO transcription factors coordinate the urea cycle and gluconeogenesis by controlling <i>Ass1</i>
  iScience · DOI · Europe PMC
• 2026-08病例报告开放获取
  Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases
  Journal of clinical medicine · DOI · Europe PMC
• 2026-08综述开放获取
  Induced Pluripotent Stem Cells in Non-Model Species: Applications and Challenges
  Cells · DOI · Europe PMC
• 2026-08开放获取
  Feeding Intolerance and Citrulline Generation Test in the Critically Ill: A Prospective Study
  Nutrients · DOI · Europe PMC
• 2026-08开放获取
  The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
  International journal of neonatal screening · DOI · Europe PMC
• 2026-08开放获取
  Pediatric hemorrhagic stroke in southern China: Analysis of 159 cases
  The Journal of international medical research · DOI · Europe PMC
• 2026-08系统综述开放获取
  A systematic review and critical analysis of the evidence for transmission ratio distortion in humans
  Genetics · 被引 2 · DOI · Europe PMC
• 2026-07开放获取
  Mitochondrial control of amino acid catabolism by a fasting-inducible mitochondrial carrier
  Science advances · DOI · Europe PMC
• 2026-07综述开放获取
  A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China
  International journal of neonatal screening · DOI · Europe PMC
• 2026-07开放获取
  Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of <i>SLC25A13</i> Gene Mutations in Hefei, China
  International journal of neonatal screening · DOI · Europe PMC
• 2026-07开放获取
  Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-07开放获取
  Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
  JIMD reports · DOI · Europe PMC
• 2026-07开放获取
  <i>Cynara scolymus</i> Extract-Inulin Feed Additive Improves Intestinal Function and Growth in Weaned Piglets
  Animals : an open access journal from MDPI · DOI · Europe PMC
• 2026-07开放获取
  Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study
  Frontiers in pediatrics · DOI · Europe PMC

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。

• Ammonaps欧盟1999-12-07
  sodium phenylbutyrate
  官方记录
• Ucephan美国1987-12-23
  Benzoate 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

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。

中国境外的在招试验 3L2

共 3 项。

• 尚未开始招募NCT07773246
  Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD
  I 期、II 期 · 干预性 · 2026/09Korro Bio, Inc.
  澳大利亚
• 招募中NCT04908319
  Hepatic Histopathology in Urea Cycle Disorders
  观察性 · 2022/02/24Baylor College of Medicine
  美国
• 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