异戊酸血症
Isovaleric acidemia
定义 英文原文（暂无中文）
A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.
别名
异戊酸辅酶A脱氢酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、成年期、儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| IVD | isovaleryl-CoA dehydrogenase | Disease-causing germline mutation(s) in |
临床表型 29
极常见 99–80%2
- 全面发育迟缓 HP:0001263
- 代谢性酸中毒 HP:0001942
常见 79–30%13
- 3-羟基异戊酸尿 HP:0033111
- 循环中异戊酰肉碱浓度升高 HP:0033447
- 血清阴离子间隙升高 HP:0031962
- 发育迟滞 HP:0001508
- 婴儿期喂养困难 HP:0008872
- 高氨血症 HP:0001987
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 酮尿 HP:0002919
- 乳酸酸中毒 HP:0003128
- 昏睡 HP:0001254
- 癫痫发作 HP:0001250
- 呕吐 HP:0002013
偶见 29–5%11
- 急性胰腺炎 HP:0001735
- 注意力缺陷多动障碍 HP:0007018
- 昏迷 HP:0001259
- 意识模糊 HP:0001289
- 语言发育迟缓 HP:0000750
- 辨距不良 HP:0001310
- 低钙血症 HP:0002901
- 低体温 HP:0002045
- 运动发育迟缓 HP:0001270
- 震颤 HP:0001337
- 体重减轻 HP:0001824
罕见 <4–1%3
- 苍白球形态异常 HP:0002453
- 心律失常 HP:0011675
- 肾范可尼综合征 HP:0001994
近两年的全球研究 102L2
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Immune Dysregulation in Branched Chain Organic Acidemias
- 2026-06开放获取The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases
- 2026-06病例报告开放获取Immune dysregulation syndrome associated with inborn errors of metabolism - hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report
- 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
- 2026-05Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders
- 2026-05开放获取Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels
- 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Serum Metabolomic Profiling Reveals Distinct Signatures and Candidate Biomarkers in Chronic Kidney Disease
- 2026-05开放获取Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021)
- 2026-05开放获取Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category
- 2026-05病例报告[N-carbamylglutamate in the treatment of neonatal organic acidemia crisis: a report of five cases]
- 2026-04病例报告开放获取Beyond BRUE (Brief Resolved Unexplained Event): Recurrent Unexplained Events Revealing Congenital Hyperinsulinism in Infancy
- 2026-04开放获取Benchmarking genetic birth prevalence estimates against newborn screening data
- 2026-04开放获取Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry?
- 2026-04开放获取A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous <i>IVD</i> Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow-Up
- 2026-03开放获取Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience
- 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
- 2026-03开放获取Current Status of Newborn Screening in Southeastern and Central Europe
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。
- Ucedane欧盟2017-06-23carglumic acid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。
在中国开展的临床试验 1L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
当前没有检索到登记为可入组的试验。
其他状态的试验（1 项）
- 已完成NCT02322060In Vitro Activation of Dormant Follicles for Patients With Primary Ovarian Insufficiency中国研究中心 1 个：Zhengzhou
中国境外的在招试验 1L2
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 1 项。
- 尚未开始招募NCT07028918A Prospective Single-Arm Study（NCLDR）
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）