极长链酰基辅酶A脱氢酶缺乏症
Very long chain acyl-CoA dehydrogenase deficiency
定义 英文原文（暂无中文）
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
别名
VLCAD 缺乏症
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
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ACADVL | acyl-CoA dehydrogenase very long chain | Disease-causing germline mutation(s) in |
临床表型 40
常见 79–30%1
- 循环系统内游离脂肪酸水平增高 HP:0030781
偶见 29–5%15
- 房间隔缺损 HP:0001631
- 血清肌酸磷酸激酶升高 HP:0003236
- 循环肝转氨酶水平升高 HP:0002910
- 阵发性呼吸急促 HP:0002876
- 运动诱发的横纹肌溶解 HP:0009045
- 喂养困难 HP:0011968
- 肝脏肿大 HP:0002240
- 低酮性低血糖 HP:0001985
- 低体温 HP:0002045
- 黄疸 HP:0000952
- 超重 HP:0025502
- 卵圆孔未闭 HP:0001655
- 呼吸窘迫 HP:0002098
- 小于胎龄儿 HP:0001518
- 室间隔缺损 HP:0001629
罕见 <4–1%24
- 肛门前置 HP:0001545
- 心律失常 HP:0011675
- 房室传导阻滞 HP:0001678
- 扩张型心肌病 HP:0001644
- 小脑延髓池扩大 HP:0002280
- 婴儿型肌张力减退 HP:0008947
- 高氨血症 HP:0001987
- 低钙血症 HP:0002901
- 低蛋白血症 HP:0003075
- 皮肤炎症反应 HP:0011123
- 昏睡 HP:0001254
- 巨头畸形 HP:0000256
- 代谢性酸中毒 HP:0001942
- 肌肉痉挛 HP:0003394
- 肥胖 HP:0001513
- 疼痛 HP:0012531
- 心包积液 HP:0001698
- 肺炎 HP:0002090
- QT间期延长 HP:0001657
- 心动过速 HP:0001649
- 呼吸过速 HP:0002789
- 心室纤颤 HP:0001663
- 室性心动过速 HP:0004756
- 呕吐 HP:0002013
近两年的全球研究 135L2
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。
- 2026-11开放获取Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
- 2026-09综述开放获取From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis
- 2026-08开放获取Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way
- 2026-08开放获取Hormonal Responses to a Short Daytime Fast in Children With Beta-Oxidation Disorders
- 2026-08开放获取A Case of Suspected Multiple Acyl-CoA Dehydrogenase Deficiency-Induced Encephalopathy
- 2026-08开放获取The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
- 2026-08开放获取Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis
- 2026-08[Screening and genetic variation analysis of fatty acid oxidation disorder in neonates in Qingdao City]
- 2026-07综述开放获取The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases
- 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
- 2026-07Comparison of methods for defatted human milk and nutrient composition: An experimental study
- 2026-07病例报告开放获取TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report
- 2026-07开放获取How to Do Echo in Left Ventricular Hypertrophy: A Consensus Statement of the Italian Society of Echocardiography and Cardiovascular Imaging
- 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
- 2026-06综述开放获取Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders
- 2026-06综述开放获取Recent advances in the bioanalysis of acylcarnitines: Methodologies, challenges, and clinical perspectives
- 2026-06开放获取Prenatal Exposure to Persistent Organic Pollutants Is Associated with Altered Lipid and Metabolomic Profiles in Mothers and Newborns
- 2026-05病例报告Expanding the Mutational Spectrum of <i>ACADVL</i>: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
- 2026-05开放获取Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
- 2026-05开放获取Long-term safety and efficacy of triheptanoin in Korean patients with long-chain fatty acid oxidation disorders: a prospective, open-label, single-center, phase II clinical study
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。
尚未获批的在研药物（1 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- triheptanoin欧盟2015-06-19Treatment of very long-chain acyl-CoA dehydrogenase deficiency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 4L2
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。
以色列1美国1奥地利1德国1意大利1
共 4 项。
- 招募中NCT06017869Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)以色列
- 招募中NCT04602325Systemic Biomarkers of Brain Injury From Hyperammonemia美国
- 招募中NCT05554835Global Registry and Natural History Study for Mitochondrial Disorders奥地利、德国、意大利
- 可获取（拓展性用药）NCT03773770Expanded Access to Triheptanoin
外部标识与链接
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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）