异芽基辅酶脱酶缺乏:疾病,还是非疾病?
María Daniela Santacruz Reyes1, Jörn Oliver Sass2
1Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Research Group Inborn Errors of Metabolism, Bonn-Rhein Sieg University of Applied Sciences, Von-Liebig-Str. 20, 53359, Rheinbach, Germany.
Orphanet journal of rare diseases
|January 29, 2026
概括
大多数患有异芽基辅酶A脱酶缺乏症 (IBDD) 的个体在新生儿查后仍然无症状. 然而,有些人可能会出现非特异性症状或肝脏问题,这需要进一步研究潜在的肝脏影响.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 异芽基辅酶A脱酶缺乏症 (IBDD) 是一种罕见的遗传代谢障碍,影响氨酸的分解.
- 它是由ACAD8基因突变引起的,其临床意义和疾病谱仍在争论中.
- 这项研究系统地审查了已发表的IBDD病例,以澄清表型和分子发现.
研究的目的:
- 提供IBDD临床特征和分子谱的全面概述.
- 根据已发表的数据,评估IBDD的疾病状况和临床意义.
- 为有关IBDD在新生儿查计划中被纳入的讨论提供信息.
主要方法:
- 系统性文献审查所有已发表的IBDD病例,截至2024年12月.
- 对诊断方法,临床表现和遗传变异的分析.
- 对生物化学标记物的审查,包括乙卡尼丁配置文件和尿路代谢产物.
主要成果:
- 确定了172名IBDD患者;165人通过新生儿查.
- 大多数人 (146/172) 无症状,而26人表现出非特异性症状,如发育迟缓和贫血.
- 升高的C4-甲是普遍存在的;ACAD8变体是常见的,其中p.(Gly96Ser) 是普遍存在的.
- 肝功能异常,包括升高的转氨酶和肝硬化症,在一小部分患者中被发现.
结论:
- 通过新生儿查诊断IBDD往往导致无症状的结果,但有些人会出现各种症状.
- 肝酶异常和肝肥胖症可能与IBDD有关,这表明潜在的肝脏影响.
- 需要进一步的研究来了解IBDD的肝脏影响,并指导长期监测策略.
关键词:
ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD8 ACAD9 ACAD9乙卡尼丁是一种乙卡尼丁.临床表现型 临床表现型肝脏肥胖症 肝脏肥胖症异布基-CoA脱酶缺乏症异布基氨酸uria 是一种异布基氨酸uria.新生儿查 新生儿查瓦林的代谢 瓦林的代谢相关概念视频
Cofactors and Coenzymes
87.4K
Enzymes require additional components for proper function. There are two such classes of molecules: cofactors and coenzymes. Cofactors are metallic ions and coenzymes are non-protein organic molecules. Both of these types of helper molecule can be tightly bound to the enzyme or bound only when the substrate binds.
87.4K
Inflammatory Bowel Disease II: Crohn's Disease
1.0K
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
1.0K
Immunodeficiency Diseases
2.4K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
2.4K
Parkinson's Disease: Treatment
1.2K
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
1.2K
Alzheimer's Disease: Treatment
944
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
944
Principles of Disease Surveillance
540
Disease surveillance is the systematic collection, analysis, and interpretation of health data essential to the planning, implementation, and evaluation of public health practice. This process integrates data dissemination to entities responsible for preventing and controlling disease, injury, and disability. Surveillance systems provide crucial information for action, helping public health authorities make informed decisions to manage and prevent outbreaks, ensure public safety, optimize...
540


