AGLU03206 OPEN LABEL EXTENSION OF AGLU02704

AGLU03206 AGLU02704 的开放标签扩展

• 批准号: 7717143
• 负责人: BARRY J BYRNE
• 金额: $ 0.43万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-12-01 至 2008-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7717143
• 关键词: Acids; Age; Binding; Cardiomyopathies; Cessation of life; Childhood; Computer Retrieval of Information on Scientific Projects Database; Deterioration; Disease; Dissociation; Enzymes; Funding; Glycogen; Glycogen storage disease type II; Grant; Institution; Label; Life; Metabolic; Muscle; Muscle function; Myopathy; Organ; Organelles; Pathology; Patients; Pelvis; Range; Rate; Research; Research Personnel; Resources; Respiratory Failure; Respiratory Muscles; Shoulder; Skeletal system; Source; Symptoms; Tissues; United States National Institutes of Health; Ventilator; Wheelchairs; base; experience; glucosidase; infancy; respiratory

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Pompe disease is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid Q glucosidase an enzyme that degrades lysosomal glycogen. As opposed to the exclusively cytoplasmic accumulation of glycogen that occurs in other glycogen storage disorders, Pompe disease is characterized by organelle bound lysosomal and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. Pompe disease is classified into different subtypes based on the age at onset of symptoms, extent of organ involvement, and rate of progression to death. There is a broad spectrum of disease ranging from a rapidly progressive form infantile-onset to a more slowly progressive form late-onset with considerable variability and overlap existing between these extremes. It is important to note that all presentations of Pompe disease share a common underlying pathology; i.e., deficiency of GAA with subsequent accumulation of glycogen. Symptoms appear during childhood or as late as the sixth decade of life. Patients present with progressive myopathy, predominantly of the proximal muscles in the pelvic and shoulder girdles, and a variable progression of respiratory involvement. The patients develop minimal or no cardiomyopathy. The course of late-onset Pompe disease is less predictable than the infantile form, with some patients experiencing a rapid deterioration in skeletal and respiratory muscle function leading to loss of ambulation and respiratory failure, others progressing less rapidly, and others with dissociation in the progression of skeletal and respiratory muscle involvement . Most patients become wheelchair-bound, require ventilator support and ultimately succumb to respiratory failure.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 庞贝疾病是一种罕见的常染色体隐性代谢肌肉疾病，由酸Q葡萄糖酶的缺乏​​引起，一种降解溶酶体糖原的酶。与其他糖原储存障碍中发生的糖原的细胞质积累相比，蓬松疾病的特征是细胞器结合的溶酶体和糖化体外糖体在许多人体组织中的溶酶体积累，最终导致多膜系统病理学。 根据症状发作时的年龄，器官受累的程度以及进展到死亡的速度，庞贝疾病被归类为不同的亚型。疾病范围从迅速进行的婴儿发作到更缓慢的渐进形式，较晚发病，这些极端之间存在很大的可变性，并且在这些极端之间存在重叠。重要的是要注意，庞贝疾病的所有介绍具有共同的潜在病理。即，GAA的缺乏，随后积累了糖原。 症状出现在童年时期或生命的第六个十年。患者患有进行性肌病，主要是骨盆和肩膀束近端肌肉，以及呼吸受累的可变进展。患者患有最小或没有心肌病。晚期蓬松疾病的进程比婴儿形式不可预测，有些患者在骨骼和呼吸肌肉功能方面迅速恶化，导致移动和呼吸衰竭的丧失，而其他患者则进展较低，而其他患者则在骨骼和呼吸肌肉参与进展方面的分离。 大多数患者成为轮椅结合，需要呼吸机支持，并最终屈服于呼吸衰竭。