系统性原发性肉碱缺乏症

定义 英文原文（暂无中文）

A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

别名

肉碱血浆-膜转运体缺陷

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

1-9 / 100 000（Europe）

相关基因 1

临床表型 9

近两年的全球研究 16L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 16 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-02开放获取
  RPLC- and HILIC-based non-targeted metabolomics workflow for blood microsamples
  Metabolomics : Official journal of the Metabolomic Society · 被引 2 · DOI · Europe PMC
• 2025-11开放获取
  Structural basis of sodium ion-dependent carnitine transport by OCTN2
  Nature communications · 被引 2 · DOI · Europe PMC
• 2025-11病例报告开放获取
  Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review
  Frontiers in pediatrics · DOI · Europe PMC
• 2025-09
  Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes
  Clinical genetics · DOI · Europe PMC
• 2025-09综述开放获取
  Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models
  EMBO molecular medicine · 被引 1 · DOI · Europe PMC
• 2025-05开放获取
  Developing a machine learning algorithm to predict psychotropic drugs-induced weight gain and the effectiveness of anti-obesity drugs in patients with severe mental illness: Protocol for a prospective cohort study
  PloS one · DOI · Europe PMC
• 2025-05开放获取
  Assessing large language model performance related to aging in genetic conditions
  npj aging · 被引 1 · DOI · Europe PMC
• 2025-04开放获取
  Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss
  International journal of neonatal screening · 被引 1 · DOI · Europe PMC
• 2025-04开放获取
  Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report
  JIMD reports · 被引 1 · DOI · Europe PMC
• 2024-12开放获取
  A Clinical Nomogram for Predicting Substandard Serum Valproic Acid Concentrations in Chinese Patients With Epilepsy
  Current therapeutic research, clinical and experimental · 被引 2 · DOI · Europe PMC
• 2024-12综述开放获取
  Primary Carnitine Deficiency
  · Europe PMC
• 2024-11病例报告开放获取
  Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy
  JACC. Case reports · DOI · Europe PMC
• 2024-11
  Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters
  European journal of human genetics : EJHG
• 2024-10开放获取
  Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals
  Human genomics · 被引 8 · DOI · Europe PMC
• 2024-08开放获取
  Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children's hospital
  HGG advances · 被引 6 · DOI · Europe PMC
• 2024-08综述开放获取
  The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation
  International journal of molecular sciences · 被引 7 · DOI · Europe PMC

境外已获批用于本病的药物 1L2

欧盟 0 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Carnitor美国1986-04-10
  Levocarnitine
  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

共 2 项。

• 招募中NCT07201714
  Oral Carnitine in Heart Failure Patients
  早期 I 期 · 干预性 · 2025/11/12London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
  加拿大
• 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