相关实验视频
Updated: May 10, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
陶罗酸携带载体多缺乏症与新型PYGL突变相结合,导致VI型糖原储存疾病:一个罕见的病例报告
Meifen Wang1, Mingying Wang2, Juan Li2
1Department of Infectious Diseases.
Clinics and research in hepatology and gastroenterology
|March 3, 2026
概括
本案例报告详细介绍了第一个已知的Sodium Taurocholate Cotransporting Polypeptide Deficiency (NTCPD) 和Glycogen Storage Disease Type VI (GSD-VI) 在儿童中同时发生的情况. 早期诊断和治疗导致肝功能和生长的显著改善.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 肝病学 肝病学是一种肝病学.
背景情况:
- 陶酸携带多缺乏症 (NTCPD) 和糖原储存疾病类型VI (GSD-VI) 是一种罕见的自体逆向遗传疾病,影响肝脏代谢.
- NTCPD是由影响胆酸运输的SLC10A1突变产生的,而GSD-VI则源于导致肝脏糖原酸化酶缺乏症的PYGL突变.
- 之前没有记录过同时发生NTCPD和GSD-VI的病例.
研究的目的:
- 报告一个儿童被诊断出患有NTCPD和GSD-VI. 的独特病例.
- 强调综合基因评估对于复杂的儿科代谢障碍的重要性.
主要方法:
- 一个2岁至11个月大的女婴的临床表现分析.
- 长度随访和评估治疗疗效超过1年和6个月.
- 基因分析以确认SLC10A1和PYGL基因中的突变.
主要成果:
- 患者表现出症状,包括轻度黄,肝壮病和生长迟缓.
- 在治疗和随访后,观察到肝功能和生长的显著改善.
- 通过基因检测确认了共存NTCPD和GSD-VI的诊断.
结论:
- 这一案例代表了NTCPD和GSD-VI一起发生的第一个记录实例.
- 综合性遗传分析对于诊断儿童罕见,共存的代谢性肝病至关重要.
- 及时干预可以在患有复杂遗传性肝脏疾病的患者中带来积极的临床结果.
相关概念视频
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:22Lysosomal Hydrolases
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,...
01:27Glucose Transporters
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:
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:20Inborn Errors of Metabolism
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...
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...