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 130L2
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
- 2026-09Considering Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Prenatal Genetic Assessment of Cystic Renal Anomalies
- 2026-09Acquired multiple acyl-CoA dehydrogenase deficiency (MADD) provoked by sertraline: an emerging and treatable disorder
- 2026-09病例报告Glutaric acidemia type 2 presenting as a surgical acute abdomen: a case of unnecessary exploratory laparotomy in an adult
- 2026-09病例报告开放获取A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis
- 2026-09综述Recent advances in adult-onset disorders of muscle lipid metabolism
- 2026-08开放获取A Case of Suspected Multiple Acyl-CoA Dehydrogenase Deficiency-Induced Encephalopathy
- 2026-08病例报告开放获取A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease
- 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Metabolic insights into the pathophysiology of tuberculous meningitis in FFPE postmortem human brain tissue
- 2026-08[Screening and genetic variation analysis of fatty acid oxidation disorder in neonates in Qingdao City]
- 2026-07Progressive Weakness and Hypoglycemia in a Child With Selective Eating: A Nutritional Mimic of a Fatty Acid Oxidation Disorder
- 2026-07综述开放获取Non-Mammalian Models for Mitochondria Research in CNS Disorders
- 2026-06开放获取Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026
- 2026-06开放获取Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants
- 2026-05开放获取Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study
- 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Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes
- 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
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。
- 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 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。
共 3 项。
- 招募中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）