长链3-羟基乙酰基-CoA脱氢酶缺乏

定义 英文原文（暂无中文）

A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.

别名

长链3-羟基乙酰基-CoA脱氢酶缺乏

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

1-9 / 100 000（Europe）

相关基因 1

临床表型 25

近两年的全球研究 62L2

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。

• 2026-06综述
  The prevalence of the common LCHAD c.1528G>C p.(Glu510Gln) pathogenic variant in women diagnosed with acute fatty liver of pregnancy
  Obstetric medicine · DOI · Europe PMC
• 2026-06综述开放获取
  Hidden and Under-Recognized Causes of Sudden Unexpected Death in Infancy (SUDI): A Comprehensive Review of Autopsy Findings
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-04病例报告
  Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants
  American journal of medical genetics. Part A · DOI · Europe PMC
• 2026-03综述开放获取
  Pediatric Cholestasis: A Practical Approach to Histological Diagnosis
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-03开放获取
  Current Status of Newborn Screening in Southeastern and Central Europe
  International journal of neonatal screening · DOI · Europe PMC
• 2026-03开放获取
  Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation
  International journal of neonatal screening · DOI · Europe PMC
• 2026-03综述开放获取
  Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management
  Journal of clinical medicine
• 2026-02病例报告开放获取
  Incidental maternal glutaric aciduria type I detection through newborn screening: A case report
  Molecular genetics and metabolism reports · DOI · Europe PMC
• 2026-02综述开放获取
  Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review
  O&G open · DOI · Europe PMC
• 2026-02开放获取
  The Impact of Nutritional Management on Fat-Soluble Nutrient Status in Patients with Fatty Acid Oxidation Disorders: A Cross-Sectional Study
  Metabolites · DOI · Europe PMC
• 2026-02
  Hope for a heart's lonesome hunt: metabolic roadblocks and cardiac electrical instability in long-chain fatty acid oxidation deficiency
  American journal of physiology. Heart and circulatory physiology · DOI · Europe PMC
• 2026-02
  MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders
  Investigative radiology · DOI · Europe PMC
• 2026-02综述
  Foods for special medical purposes for the dietary therapy of rare diseases: Current status and future prospects
  Intractable & rare diseases research · DOI · Europe PMC
• 2026-01综述开放获取
  Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)-Associated Ocular Pathology-A Narrative Review
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-01综述开放获取
  The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions
  Annals of medicine · 被引 4 · DOI · Europe PMC
• 2025-12
  Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mouse model
  American journal of physiology. Heart and circulatory physiology · 被引 1 · DOI · Europe PMC
• 2025-12开放获取
  Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation
  Journal of translational medicine · DOI · Europe PMC
• 2025-12开放获取
  A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up
  International journal of neonatal screening · DOI · Europe PMC
• 2025-12开放获取
  Extended Lombardy's Neonatal Screening Dataset
  Scientific data · DOI · Europe PMC
• 2025-12开放获取
  Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes
  International journal of neonatal screening · 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