中链酰基辅酶A脱氢酶缺乏
Medium chain acyl-CoA dehydrogenase deficiency
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
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ACADM | acyl-CoA dehydrogenase medium chain | Disease-causing germline mutation(s) in |
临床表型 37
常见 79–30%12
- 肝功能下降 HP:0001410
- 血浆总肉碱降低 HP:0011936
- 二羧酸尿症 HP:0003215
- 运动诱发的肌肉痛 HP:0003738
- 疲劳性肌无力 HP:0003473
- 颈部肌肉疲劳性无力 HP:0030199
- 肝脏肿大 HP:0002240
- 高氨血症 HP:0001987
- 肌张力减退 HP:0001252
- 近端肌肉无力 HP:0003701
- 腱反射减低 HP:0001315
- 呕吐 HP:0002013
偶见 29–5%25
- 循环乳酸脱氢酶水平异常 HP:0045040
- 心律失常 HP:0011675
- 共济失调 HP:0001251
- 双侧强直- 阵挛发作 HP:0002069
- 恶病质 HP:0004326
- 心脏扩大 HP:0001640
- 昏迷 HP:0001259
- 语言发育迟缓 HP:0000750
- 腹泻 HP:0002014
- 远端关节挛缩 HP:0005684
- 血清肌酸磷酸激酶升高 HP:0003236
- 循环肝转氨酶水平升高 HP:0002910
- 尿3-羟基丁酸水平升高 HP:0040155
- 劳力性呼吸困难 HP:0002875
- 疲乏 HP:0012378
- 高热惊厥(年龄在3个月至6岁之间) HP:0002373
- 肝脂肪变性 HP:0001397
- 低血糖 HP:0001943
- 酮症 HP:0001946
- 昏睡 HP:0001254
- 意识丧失 HP:0007185
- 巨头畸形 HP:0000256
- 肌肉痉挛 HP:0003394
- 肌病 HP:0003198
- 骨骼肌萎缩 HP:0003202
近两年的全球研究 138L2
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。
- 2026-06Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions
- 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
- 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
- 2026-06开放获取High-Risk Pregnancy Associated With Maternal Hypoparathyroidism and Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- 2026-05综述开放获取Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction
- 2026-05开放获取Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category
- 2026-05Medium-chain acyl-CoA dehydrogenase deficiency diagnosed in adulthood
- 2026-04开放获取Benchmarking genetic birth prevalence estimates against newborn screening data
- 2026-04开放获取Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt
- 2026-04病例报告Early-onset and rapid progression of arrhythmogenic cardiomyopathy in a pediatric patient with medium chain acyl-CoA dehydrogenase deficiency
- 2026-042023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions
- 2026-03病例报告开放获取Local Urticarial Reaction Above the Site of an Intravenous Cannula: Possible Allergy to Remimazolam in a Fourteen-Year-Old Adolescent
- 2026-03开放获取Stage-specific nutritional blueprints of date fruit revealed by integrated LC-MS metabolomics and ICP-OES profiling
- 2026-03开放获取Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0-6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism
- 2026-03综述开放获取Pediatric Cholestasis: A Practical Approach to Histological Diagnosis
- 2026-03开放获取Current Status of Newborn Screening in Southeastern and Central Europe
- 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
- 2026-02开放获取Exploring Deleterious Nonsynonymous SNPs in the <i>ACADM</i> Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis
- 2026-02综述开放获取Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review
- 2026-02开放获取Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
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。
已获孤儿药资格、尚未获批的在研药物（1 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，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。
- riboflavin欧盟2023-11-08Treatment of medium-chain acyl-coenzyme A dehydrogenase deficiency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 5L2
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。
美国3丹麦1
共 5 项。
- 尚未开始招募NCT07734090Natural History of MADD美国
- 招募中NCT06773026Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)美国
- 招募中NCT06623032Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals丹麦
- 招募中NCT04602325Systemic Biomarkers of Brain Injury From Hyperammonemia美国
- 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）