中链酰基辅酶A脱氢酶缺乏

定义 英文原文（暂无中文）

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

别名

中链酰基辅酶a脱氢酶缺乏继发的肉碱缺乏

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

1-5 / 10 000（Europe）

相关基因 1

临床表型 37

近两年的全球研究 152L2

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
  Medium-chain acyl-CoA dehydrogenase deficiency: A ten-year single-center case series from India
  Clinica chimica acta; international journal of clinical chemistry · DOI · Europe PMC
• 2026-09综述开放获取
  Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09综述开放获取
  Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review
  Medical science monitor : international medical journal of experimenta · DOI · Europe PMC
• 2026-09综述开放获取
  Potential alternatives in treatment of kawasaki disease to reduce the extremely rare risk of reye syndrome
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-09开放获取
  An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
  Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  Hormonal Responses to a Short Daytime Fast in Children With Beta-Oxidation Disorders
  JIMD reports · DOI · Europe PMC
• 2026-08开放获取
  Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders
  Human mutation · DOI · Europe PMC
• 2026-08病例报告开放获取
  Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report
  Cureus · DOI · Europe PMC
• 2026-08病例报告开放获取
  Medium-chain acyl-CoA dehydrogenase deficiency in the neonatal period: a case report Niedobór dehydrogenazy acylo-CoA średniołańcuchowych kwasów tłuszczowych w okresie noworodkowym – opis przypadku
  Pediatric endocrinology, diabetes, and metabolism
• 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
  Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis
  JIMD reports · DOI · Europe PMC
• 2026-08开放获取
  Targeted metabolomic profiling and machine learning-based prediction models for persistent atrial fibrillation: a multi-center observational study
  PeerJ · DOI · Europe PMC
• 2026-08
  [Screening and genetic variation analysis of fatty acid oxidation disorder in neonates in Qingdao City]
  Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pedia · DOI · Europe PMC
• 2026-07综述开放获取
  The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases
  Cells · 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
• 2026-07开放获取
  Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia
  Molecular and cellular pediatrics · 被引 1 · DOI · Europe PMC
• 2026-06综述开放获取
  Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis
  Metabolites · DOI · Europe PMC
• 2026-06
  Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions
  Genetics in medicine : official journal of the American College of Med · DOI · Europe PMC
• 2026-06开放获取
  Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization
  International journal of neonatal screening · DOI · Europe PMC
• 2026-06综述开放获取
  The significance of the ketolytic gene OXCT1 in metabolism, intracellular signaling and disease development
  Cellular and molecular life sciences : CMLS · 被引 1 · 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 5L2

共 5 项。

• 招募中NCT07734090
  Natural History of MADD
  观察性 · 2026/10Icahn School of Medicine at Mount Sinai
  美国
• 招募中NCT06773026
  Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
  II 期 · 干预性 · 2025/06/30Jerry Vockley, MD, PhD
  美国
• 招募中NCT06623032
  Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals
  不适用 · 干预性 · 2024/10/18University of Copenhagen
  丹麦
• 招募中NCT04602325
  Systemic Biomarkers of Brain Injury From Hyperammonemia
  观察性 · 2020/07/09Children's National Research Institute
  美国
• 可获取（拓展性用药）NCT03773770
  Expanded Access to Triheptanoin
  拓展性用药Ultragenyx Pharmaceutical Inc

外部标识与链接