丙酸血症
Propionic acidemia
定义 英文原文（暂无中文）
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
别名
丙酰辅酶A羧化酶缺乏
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 / 1000（Canada）
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PCCA | propionyl-CoA carboxylase subunit alpha | Disease-causing germline mutation(s) in |
| PCCB | propionyl-CoA carboxylase subunit beta | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%5
- 便秘 HP:0002019
- 高氨血症 HP:0001987
- 低血糖 HP:0001943
- 有机酸尿症 HP:0001992
- 丙酰辅酶A羧化酶缺乏 HP:0003353
常见 79–30%5
- 免疫系统功能异常 HP:0010978
- 心律失常 HP:0011675
- 全面发育迟缓 HP:0001263
- 肝脏肿大 HP:0002240
- 智力障碍 HP:0001249
偶见 29–5%1
- 心肌病 HP:0001638
近两年的全球研究 337L2
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Biomarkers and surrogate endpoints for drug development in propionic acidemia
- 2026-07Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers
- 2026-07综述Immune Dysregulation in Branched Chain Organic Acidemias
- 2026-07Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study
- 2026-06Protective in vitro effects of antioxidants against DNA damage induced by metabolites accumulated in propionic and methylmalonic acidemias
- 2026-06开放获取Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study
- 2026-06综述Precision metabolic therapy for propionic acidemia
- 2026-06开放获取Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review
- 2026-06Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings
- 2026-06开放获取The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases
- 2026-06Targeted gene editing of <i>PCCA</i> pseudoexon using CRISPR-Cas12a for potential therapy in propionic acidemia
- 2026-06开放获取Urinary organic acid levels and their associations with clinical characteristics in patients with schizophrenia
- 2026-06开放获取A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population
- 2026-06综述开放获取Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening
- 2026-06开放获取A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil
- 2026-06Abstract
- 2026-05开放获取Safe and Early Primary Closure of Open Abdomen in Pediatric Liver Transplantation Using a Doppler-Guided Tension Relief Strategy and Enhanced Wound Environment
- 2026-05综述开放获取Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction
- 2026-05综述开放获取mRNA Lipid Nanoparticles for Cell Engineering in Vivo and in Vitro: Current Applications and Future Directions
- 2026-05Loss of pyruvate carboxylase suppresses lethality in propionic acidemia
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。
- Carbaglu欧盟2003-01-24carglumic acid官方记录
已获孤儿药资格、尚未获批的在研药物（7 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。
- Prohippur欧盟2002-09-11benzoic acid, sodium saltTreatment of non-ketotic hyperglycinaemia官方记录
- modified messenger ribonucleic acid encoding human propionyl-coenzyme 欧盟2019-04-24Treatment of propionic acidaemia官方记录
- messenger ribonucleic acid-based therapeutic agent encoding human prop美国2018-12-05Treatment of propionic acidemia.官方记录
- Adeno-Associated Viral Vector Expressing Codon-optimized Human PCCA cD美国2020-08-26Treatment of Propionic Acidemia官方记录
- 2,2-dimethylbutanoic acid美国2020-12-10Treatment of propionic acidemia官方记录
- Adeno-Associated Virus 9 human Propionyl-CoA Carboxylase, alpha subuni美国2021-09-27Treatment of propionic acidemia官方记录
- Adeno-Associated Virus 9 vector expressing a wild-type cDNA encoding h美国2024-09-10Treatment of propionic acidemia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 9L2
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7法国4西班牙4英国4加拿大3日本3荷兰3澳大利亚2意大利2沙特阿拉伯2德国1挪威1瑞典1
共 9 项。
- 招募中NCT07643844AAVrh10-PCCA Gene Therapy for Propionic Acidemia美国
- 尚未开始招募NCT06664840MyRareDiet A Novel Diet Tracking Tool
- 招募中NCT05769621A Retrospective Study to Characterize Participants With Propionic Acidemia澳大利亚、加拿大、法国、意大利、日本、荷兰、西班牙、英国 等 9 国
- 招募中NCT05040178An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics美国
- 招募中NCT05130437A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study加拿大、法国、日本、荷兰、沙特阿拉伯、西班牙、英国、美国
- 招募中NCT04159103Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia加拿大、法国、日本、荷兰、沙特阿拉伯、西班牙、英国、美国
- 招募中NCT04176523Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach法国、德国、意大利、挪威、西班牙、瑞典、英国
- 招募中NCT02890342Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia美国
- 招募中NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford澳大利亚、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）