Clinical Heterogenity in Patients with Congenital Disorders of Glycosylation

先天性糖基化障碍患者的临床异质性

• 批准号: 7594302
• 负责人: William Allen Gahl
• 金额: $ 29.68万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7594302
• 关键词: Adult; Affect; Biochemical; Caring; Cataloging; Catalogs; Child; Clinical; Clinical Management; Clinical Research; Congenital Disorders; Defect; Development; Diagnosis; Dietary Intervention; Disease; Enzymes; Event; Genes; Goals; Growth; Hereditary Disease; Hospitals; Hypoglycemia; Individual; Infant; Lead; Link; Mannose; Metabolic; Metabolic Diseases; Neurologic Manifestations; Numbers; Oligosaccharides; Patients; Phase; Phenotype; Physicians; Range; Resources; Risk; Therapeutic; United States; base; clinical phenotype; feeding; gastrointestinal symptom; glycosylation; improved; infancy; insight; novel therapeutics; prognostic

Congenital Disorders of Glycosylation are a diverse group of metabolic disorders presenting with a spectrum of clinical features ranging from severe neurologic manifestations and multisystemic involvement to hypoglycemia and severe gastrointestinal symptoms with normal development. There are now 17 types of CDG defined by distinct enzyme defects and genes all involved in the synthesis of N-linked oligosaccharides. The number of children and adults diagnosed with CDG in the United States is increasing rapidly with a wider variance in the phenotypes. It is clear that the clinical phenotypes and complications of these disorders are expanding. We are planning to include in these studies a new group of disorders called Congenital Muscular Dystophies(CMD). The underlying metabolic bases of these disorders is the abnormal synthesis of O-linked oligosaccharide of the mannose type. There are similar clinical questions in both of these disorders that can be answered as patient phenotypes are studied. The goal of the upcoming year will be to continue to identify and evaluate individual patients with CDG and CMD, to explore the clinical and biochemical features of untyped individuals and, through clinical research, continue to add to the compendium of clinical management strategies for physicians caring for these affected adults and children. We have completed an invited review in GeneReviews, an online resource for physicians caring for individuals with rare genetic disorders.

糖基化的先天性疾病是一组各种代谢性疾病，具有各种临床特征，从严重的神经系统表现和多系统性参与到低血糖和严重的胃肠道症状，以及正常发育。 现在有17种类型的CDG由不同的酶缺损和基因定义，为N连接的寡糖的合成。 在美国被诊断出患有CDG的儿童和成人人数正在迅速增加，随着表型的更大差异。显然，这些疾病的临床表型和并发症正在扩大。 我们计划在这些研究中包括一组称为先天性肌肉肌的疾病（CMD）。 这些疾病的基本代谢碱是甘露糖类型的O连锁寡糖的异常合成。 这两种疾病都有类似的临床问题，可以通过研究患者表型来回答。 即将到来的一年的目的是继续识别和评估患有CDG和CMD的个别患者，探索未经类型的个体的临床和生化特征，并通过临床研究继续为照顾这些受影响的成年人和儿童照顾的医生的临床管理策略汇编。 我们已经完成了Genereviews的邀请评论，这是一种在线资源，用于照顾稀有遗传疾病的人的医生。

项目成果

Quantitative dysmorphology assessment in Fabry disease.

法布里病的定量畸形评估。

• DOI: 10.1097/01.gim.0000200950.25118.dd
• 发表时间: 2006
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics
• 作者: Ries,Markus;Moore,DavidF;Robinson,ChevaliaJ;Tifft,CynthiaJ;Rosenbaum,KennethN;Brady,RoscoeO;Schiffmann,Raphael;Krasnewich,Donna
• 通讯作者: Krasnewich,Donna

Hereditary inclusion body myopathy: a decade of progress.

• DOI: 10.1016/j.bbadis.2009.07.001
• 发表时间: 2009-09
• 期刊: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
• 影响因子: 6.2
• 作者: Huizing, Marjan;Krasnewich, Donna M.
• 通讯作者: Krasnewich, Donna M.