小儿代谢疾病中的肌:临床谱,机制和可治疗的原因 - - 一个系统性审查
Elżbieta Majewska1, Zofia Zdort1, Aleksandra Ochocka1
1Students' Scientific Society, Pediatric Neurology Department, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, Poland.
Metabolites
|February 26, 2026
概括
肌,突然的非自愿运动,是遗传代谢障碍的常见迹象. 早期识别和代谢查对于及时诊断和有效治疗至关重要.
科学领域:
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 是一个遗传学.
背景情况:
- 肌肉是许多遗传代谢障碍 (IMD) 中未被认可的症状.
- 之前对代谢性肌细胞瘤的研究仅限于病例系列和小队列.
- 缺乏对代谢性肌细胞瘤的谱系,机制和治疗的系统总结.
研究的目的:
- 在遗传代谢疾病中系统地总结肌细胞的频谱,病理生理机制和治疗相关性.
- 突出承认肌细胞作为IMD的潜在指标的重要性.
主要方法:
- 在PubMed上对2014年至2025年的出版物进行了系统的文献搜索.
- 使用MeSH术语,涉及肌,运动障碍和代谢的先天性错误.
- 来自27篇文章和65篇附加参考文献的数据根据国际遗传代谢障碍分类 (ICIMD) 进行了整理.
主要成果:
- 在六个ICIMD类别中识别了肌肉细胞,包括中间代谢,线粒体能量代谢和脂质代谢.
- 临床表现各不相同,从孤立的抽到渐进的肌细胞性.
- 特定的疾病,如GLUT1缺乏和大脑肌性桑托马托सिस是可以治疗的.
结论:
- 肌细胞结核是代谢遗传错误 (IEMs) 的关键表现特征,需要及时诊断.
- 建议对不明原因的肌细胞结核进行代谢查,特别是在发育延迟或全身异常的情况下.
- 早期识别代谢性肌细胞瘤可以导致有效的干预措施和改善患者的治疗结果.
更多相关视频
08:56Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
780
06:52Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
54.6K
相关概念视频
01:13Seizures: Classification
1.8K
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
1.8K
01:28Disorders of the Skeletal Muscle
2.1K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.1K
01:24Epilepsy and Seizures: Overview
1.5K
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
1.5K
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
289
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
289
01:20Myasthenia Gravis: Overview and Treatment
3.1K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
3.1K
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
377
Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
377