枫糖尿病
Maple syrup urine disease
定义 英文原文（暂无中文）
A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.
别名
支链酮酸尿症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000
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 |
|---|---|---|
| BCKDHA | branched chain keto acid dehydrogenase E1 subunit alpha | ORPHA:268145 |
| BCKDHB | branched chain keto acid dehydrogenase E1 subunit beta | ORPHA:268145 |
| DBT | dihydrolipoamide branched chain transacylase E2 | ORPHA:268145 |
| DLD | dihydrolipoamide dehydrogenase | ORPHA:2394 |
| PPM1K | protein phosphatase, Mg2+/Mn2+ dependent 1K | ORPHA:268162 |
临床表型 11
极常见 99–80%9
- 咽部异常 HP:0000600
- 声音异常 HP:0001608
- 循环支链氨基酸浓度升高 HP:0008344
- 全面发育迟缓 HP:0001263
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 腱反射减低 HP:0001315
- 呼吸功能不全 HP:0002093
- 癫痫发作 HP:0001250
常见 79–30%2
- 共济失调 HP:0001251
- 偏瘫/轻偏瘫 HP:0004374
近两年的全球研究 393L2
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。
- 2026-07综述Branched-chain amino acids and gut microbiota: coregulation and impact on neurological function via the gut-brain axis
- 2026-07Lipid emulsion infusion and its effect on anaesthetic drugs
- 2026-07Maple Syrup Urine Disease on the Newborn Screen: Don't Sugarcoat It
- 2026-06开放获取Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye
- 2026-06开放获取The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases
- 2026-06Evidence of docosahexaenoic acid deficiency in maple syrup urine disease: insights from plasma long-chain polyunsaturated fatty acid status
- 2026-06开放获取A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population
- 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Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice
- 2026-06fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD)
- 2026-06开放获取A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil
- 2026-06Cultural adaptations of food exchange lists: A scoping review of applications in non-communicable disease management
- 2026-05开放获取Beyond Identifier Matching: An Empirical Characterization of Failure Modes in Biomedical Knowledge Graph Integration
- 2026-05Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye
- 2026-05随机对照试验开放获取Effect of Branched-Chain Amino Acid Supplementation Alone or Combined With Tryptophan or Methionine on Appetite Control and Related Health Outcomes in Older Adults: Protocol for a Randomized Controlled Trial
- 2026-05开放获取Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease
- 2026-05Maple syrup urine disease in a neonate
- 2026-05Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice
- 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Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease
境外已获批用于本病的药物 1L2
欧盟 1 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Maapliv欧盟2025-07-28amino acids官方记录
已获孤儿药资格、尚未获批的在研药物（4 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。
- sodium phenylbutyrate欧盟2022-07-18Treatment of maple syrup urine disease官方记录
- sodium phenylbutyrate美国2014-08-19Treatment of maple syrup urine disease官方记录
- a modified version of a leucine decarboxylase enzyme from Planctomycet美国2022-12-20Treatment of Maple Syrup Urine Disease官方记录
- recombinant AAV9 vector expressing functional, codon-optimized, human 美国2025-05-15treatment of branched-chain 2-ketoacid dehydrogenase (BCKDH) 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 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。
共 4 项。
- 尚未开始招募NCT06664840MyRareDiet A Novel Diet Tracking Tool
- 尚未开始招募NCT06581991Liquid Valine and Isoleucine in Maple Syrup Urine Disease
- 招募中NCT04602325Systemic Biomarkers of Brain Injury From Hyperammonemia美国
- 招募中NCT01659749Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria美国
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）