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 417L2
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Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases
- 2026-09开放获取Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study
- 2026-09综述开放获取A systematic approach to MR spectroscopy of the brain: Indications, protocol, metabolites, and spectral analysis in neurologic diseases
- 2026-09Continuous Renal Replacement Therapy for Acute Decompensation in Inborn Errors of Metabolism: Single-Center, Pediatric Cohort, 2014-2025
- 2026-09开放获取Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye
- 2026-09开放获取Full-spectrum cannabidiol-rich oil modulates behavior and neurochemical alterations in a rodent model of maple syrup urine disease
- 2026-09Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition
- 2026-09综述Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency
- 2026-08综述开放获取Amino Acid Metabolism in Health and Disease
- 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综述开放获取The gut microbiome organ
- 2026-08开放获取Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders
- 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Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots
- 2026-08开放获取Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis
- 2026-08综述Application of Analytical Techniques to Chiral Amino Acid Profiling in Clinical Samples: Bridging Chemistry and Disease Research
- 2026-08开放获取Artificial Nutrition Support During Acute Illness in Pregnancy: A Scoping Review
- 2026-07综述开放获取A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China
- 2026-07开放获取Preoperative NLR and INR, and intraoperative cold ischemia time as predictors of short-term mortality risk in paediatric liver transplantation: a LASSO-cox model study
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
尚未获批的在研药物（4 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。
- 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。
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）