在经典的银河血症中大脑功能,银河血症网络 (GalNet) 成员审查
Bianca Panis1,2,3, E Naomi Vos1,2,3,4,5, Ivo Barić6
1Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.
Frontiers in genetics
|March 1, 2024
概括
经典的银河血症 (CG) 在大多数患者中损害了大脑功能,尽管饮食治疗. 虽然许多患者保持认知功能,但有些人经历神经衰退和精神健康问题.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 经典银河血症 (CG) 是一种遗传性代谢障碍.
- 尽管限制了银河糖,但85%的CG患者经历了脑功能障碍.
- 症状包括高可变性的认知,神经心理和神经问题.
研究的目的:
- 在CG中,审查损害银河糖代谢对大脑功能障碍的影响.
- 讨论拟议的疾病机制,损伤时间和治疗选择.
- 用各种研究数据来描述随时间推移的大脑疾病的过程.
主要方法:
- 文献综述综合了关于CG和大脑功能障碍的当前知识.
- 从纵向,横截面和回顾性研究中分析数据.
- 纳入专业的临床观察,以全面描绘疾病的过程.
主要成果:
- 大多数CG患者没有表现出认知能力下降.
- 一个早期脑/小脑体积损失的子组可能会经历神经系统的恶化.
- 焦虑和抑郁是常见的,老年患者的投诉增加可能是多因素的.
结论:
- 障碍的银河糖代谢显著影响CG患者的大脑功能.
- 了解疾病的过程和症状的多因素性质对于管理至关重要.
- 对疾病机制和向治疗的进一步研究是有必要的.
相关概念视频
Inborn Errors of Metabolism
158
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
158
Glucose Transporters
22.8K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.8K
Overview of Carbohydrate Metabolism
1.0K
Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
1.0K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K


