罕见病知识库 RareSeen

戊二酰-辅酶A脱氢酶缺乏

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25疾病中国目录 第1批 · 34

定义 英文原文（暂无中文）

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

别名

戊二酰脱氢酶辅酶A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（Specific population）

相关基因 1

基因名称关联类型
GCDHglutaryl-CoA dehydrogenaseDisease-causing germline mutation(s) (loss of function) in

临床表型 43

极常见 99–80%3

  • 基底节形态异常 HP:0002134
  • 循环酶浓度或活性异常 HP:0012379
  • 戊二酸尿症 HP:0003150

常见 79–30%17

  • 尾状核形态异常 HP:0002339
  • 壳核形态异常 HP:0031982
  • 手足徐动症 HP:0002305
  • 交通性脑积水 HP:0001334
  • 构音障碍 HP:0001260
  • 吞咽困难 HP:0002015
  • 肌张力障碍 HP:0001332
  • 喂养困难 HP:0011968
  • 头痛 HP:0002315
  • 头围增加 HP:0040194
  • 岛盖张开 HP:0100954
  • 苍白球变性 HP:0007132
  • 运动不协调 HP:0002275
  • 渐进性大头畸形 HP:0004481
  • 室管膜下结节 HP:0009716
  • 基底节T2序列低信号 HP:0012753
  • 蛛网膜下腔增宽 HP:0012704

偶见 29–5%21

  • 脑白质形态异常 HP:0002500
  • 呼吸系统异常 HP:0002086
  • 共济失调 HP:0001251
  • 舞蹈样运动 HP:0002072
  • 认知功能损害 HP:0100543
  • 痴呆 HP:0000726
  • 发育倒退 HP:0002376
  • 运动不耐受 HP:0003546
  • 空腹低血糖 HP:0003162
  • 婴儿痉挛 HP:0012469
  • 关节脱位 HP:0001373
  • 肢体肌张力障碍 HP:0002451
  • 意识丧失 HP:0007185
  • 视网膜出血 HP:0000573
  • 强直 HP:0002063
  • 癫痫发作 HP:0001250
  • 严重的肌张力减退 HP:0006829
  • 硬膜下出血 HP:0100309
  • 震颤 HP:0001337
  • 巨脑室 HP:0002119
  • 眩晕 HP:0002321

罕见 <4–1%2

  • 慢性肾病 HP:0012622
  • 周围神经病 HP:0009830

近两年的全球研究 19L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 19 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-06综述开放获取
    Glutaric Acidemia Type 1
    · Europe PMC
  • 2026-05
    Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes
    Italian journal of pediatrics · DOI · Europe PMC
  • 2026-03综述病例报告开放获取
    Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report
    Neurological sciences : official journal of the Italian Neurological S · DOI · Europe PMC
  • 2026-03开放获取
    Resources for screening the literature for glycan-related terms using PubAnnotation in GlyCosmos
    Glycobiology · DOI · Europe PMC
  • 2026-02综述开放获取
    Serotonin, Kynurenine, and Indole Pathways of Tryptophan Metabolism in Humans in Health and Disease
    Nutrients · 被引 4 · DOI · Europe PMC
  • 2026-02开放获取
    Integrating Bidirectional Mendelian Randomization with Multi-Omics Reveals Causal Serum Metabolites and Novel Metabolic Drivers of Multiple Myeloma
    International journal of molecular sciences
  • 2026-01综述开放获取
    Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review
    Metabolites · DOI · Europe PMC
  • 2026-01开放获取
    Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China
    Quantitative imaging in medicine and surgery · DOI · Europe PMC
  • 2025-12开放获取
    The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach
    Journal of clinical medicine · DOI · Europe PMC
  • 2025-12开放获取
    Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy
    Children (Basel, Switzerland) · DOI · Europe PMC
  • 2025-11开放获取
    Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2025-09综述开放获取
    Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement
    International journal of molecular sciences · 被引 1 · DOI · Europe PMC
  • 2025-09系统综述开放获取
    Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review
    Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
  • 2025-06病例报告开放获取
    Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy
    Metabolites · 被引 1 · DOI · Europe PMC
  • 2025-05开放获取
    Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing
    PloS one · DOI · Europe PMC
  • 2025-02综述开放获取
    Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis
    Frontiers in pediatrics · 被引 2 · DOI · Europe PMC
  • 2025-02综述病例报告开放获取
    Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review
    Brain and behavior · DOI · Europe PMC
  • 2024-12开放获取
    Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
    International journal of neonatal screening · 被引 5 · DOI · Europe PMC
  • 2024-12
    Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes
    European journal of pediatrics · 被引 1 · DOI · Europe PMC

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。

登记为可入组 1

  • 招募中NCT06217861
    A Study to Evaluate the Tolerability, Safety and Efficacy of VGM-R02b
    I 期 · 干预性 · 2024/04/29Shanghai Vitalgen BioPharma Co., Ltd.
    中国研究中心 1 个：Hangzhou

中国境外的在招试验 2L2

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1

CT.gov 报告命中 2 项，此处取回并展示最近的 1 项。

  • 招募中NCT04602325
    Systemic Biomarkers of Brain Injury From Hyperammonemia
    观察性 · 2020/07/09Children's National Research Institute
    美国

外部标识与链接

OrphanetOMIM:231670MONDO:0009281GARD:6522ICD-10 E72.3ICD-11 5C50.E1ClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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）