多种酰基辅酶A脱氢酶缺乏症
Multiple acyl-CoA dehydrogenase deficiency
定义 英文原文（暂无中文）
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
别名
戊二酸尿症2型
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（United States）
相关基因 5来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ETFA | electron transfer flavoprotein subunit alpha | ORPHA:394529 |
| ETFB | electron transfer flavoprotein subunit beta | ORPHA:394529 |
| ETFDH | electron transfer flavoprotein dehydrogenase | ORPHA:394529 |
| FLAD1 | flavin adenine dinucleotide synthetase 1 | ORPHA:394529 |
| SLC25A32 | solute carrier family 25 member 32 | ORPHA:394532 |
临床表型 58
常见 79–30%6
- 血清肌酸磷酸激酶升高 HP:0003236
- 运动诱发的肌肉疲劳 HP:0009020
- 低血糖 HP:0001943
- 肌张力减退 HP:0001252
- 肌痛 HP:0003326
- 近端肌肉无力 HP:0003701
偶见 29–5%36
- 3-甲基戊二酸尿症 HP:0003344
- 心脏形态异常 HP:0001627
- 耳廓形态异常 HP:0000377
- 骨骼系统异常 HP:0000924
- 神经反射消失 HP:0001284
- 充血性心力衰竭 HP:0001635
- 循环肉碱浓度降低 HP:0003234
- 肝功能下降 HP:0001410
- 鼻梁塌陷 HP:0005280
- 爬楼梯困难 HP:0003551
- 吞咽困难 HP:0002015
- 呼吸困难 HP:0002094
- 循环肝转氨酶水平升高 HP:0002910
- 血浆酰基肉碱水平升高 HP:0045045
- 乙基丙二酸尿症 HP:0003219
- 运动不耐受 HP:0003546
- 颈部肌肉疲劳性无力 HP:0030199
- 喂养困难 HP:0011968
- 戊二酸尿症 HP:0003150
- 肝脏门脉周围坏死 HP:0002614
- 肝脏肿大 HP:0002240
- 额头高 HP:0000348
- 高氨血症 HP:0001987
- 脊柱前凸过度 HP:0003307
- 乳酸脱氢酶活性增高 HP:0025435
- 肌细胞内脂滴增加 HP:0012240
- 乳酸酸中毒 HP:0003128
- 乳酸血症 HP:0003648
- 代谢性酸中毒 HP:0001942
- 表型异常 HP:0000118
- 呼吸衰竭 HP:0002878
- 癫痫发作 HP:0001250
- 骨骼肌萎缩 HP:0003202
- 内眦距过宽 HP:0000506
- 呕吐 HP:0002013
- 前囟增宽 HP:0000260
罕见 <4–1%16
- 生殖系统异常 HP:0000078
- 急性胰腺炎 HP:0001735
- 心律失常 HP:0011675
- 心肌病 HP:0001638
- 心跳呼吸骤停 HP:0006543
- 脑病 HP:0001298
- 胶质细胞增生 HP:0002171
- 脑灰质异位 HP:0002282
- 行走不能 HP:0002540
- 巨头畸形 HP:0000256
- 多囊肾性发育不良 HP:0000113
- 头部控制能力弱 HP:0002421
- 限制性通气功能障碍 HP:0002091
- Reye综合征样发作 HP:0006582
- 横纹肌溶解症 HP:0003201
- 翼状肩胛 HP:0003691
近两年的全球研究 121L2
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。
- 2026-07Progressive Weakness and Hypoglycemia in a Child With Selective Eating: A Nutritional Mimic of a Fatty Acid Oxidation Disorder
- 2026-06Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants
- 2026-05Combined biochemical and genetic analysis improves early diagnosis and prenatal assessment of multiple acyl-CoA dehydrogenase deficiency
- 2026-05综述开放获取Genetics of supraventricular tachycardia: current evidence with a focus on translational relevance and personalized medicine
- 2026-05开放获取Exercise based Intervention For Metabolic Inflexibility Linked With Lipid Storage Myopathy Using Innovative CRISPR Etf-QO Mutant Knock-in Models
- 2026-05开放获取Riboflavin
- 2026-05开放获取Mitochondrial ETF insufficiency drives neoplastic growth by selectively optimizing cancer bioenergetics
- 2026-05系统综述综述开放获取Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review
- 2026-04开放获取SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula
- 2026-04病例报告Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
- 2026-04开放获取Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt
- 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开放获取Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias
- 2026-03Reply to the Complex Etiology of Sertraline-Induced Lipid Storage Myopathy and Acquired Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)-like Syndromes: Hidden Genetic Variation, Nutritional Deficiency, and Mitochondrial Vulnerability
- 2026-03开放获取Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study
- 2026-02综述开放获取Mitochondrial Dysfunctions in Human Primary Coenzyme Q<sub>10</sub> Deficiencies
- 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
- 2026-02An inducible Flad1 knockout mouse model establishes its essential role in energy metabolism, muscle function and adult survival
- 2026-02开放获取STARD10 regulates human pancreatic β cell differentiation and triglyceride metabolism
- 2026-02The Complex Etiology of Sertraline-Induced Lipid Storage Myopathy and Acquired Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)-Like Syndromes: Hidden Genetic Variation, Nutritional Deficiency, and Mitochondrial Vulnerability
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。
- D,L-3-hydroxybutyrate美国2020-11-03Treatment of multiple acyl-CoA 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 3L2
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2比利时1芬兰1法国1意大利1葡萄牙1西班牙1瑞士1英国1
共 3 项。
- 尚未开始招募NCT07734090Natural History of MADD美国
- 尚未开始招募NCT06293339Durability of Protection After Single Immunisation With GA2 Sporozoites (CoGA-Rechallenge)
- 招募中NCT05234723Ganciclovir Resistant/Refractory Cytomegalovirus Infection in SOT Recipients and HSCT Patients比利时、芬兰、法国、意大利、葡萄牙、西班牙、瑞士、英国 等 9 国
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）