PDF(Pubmed)
Abstract：
We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different gene defects and have proposed a classification system for CDG based on the mode of action. This classification includes 8 categories: 1. Disorders of monosaccharide synthesis and interconversion, 2. Disorders of nucleotide sugar synthesis and transport, 3. Disorders of N-linked protein glycosylation, 4. Disorders of O-linked protein glycosylation, 5. Disorders of lipid glycosylation, 6. Disorders of vesicular trafficking, 7. Disorders of multiple glycosylation pathways and 8. Disorders of glycoprotein/glycan degradation. Additionally, using information from IEMbase, we have described the clinical involvement of 19 organs and systems, as well as essential laboratory investigations for each type of CDG. Neurological, dysmorphic, skeletal, and ocular manifestations were the most prevalent, occurring in 81%, 56%, 53%, and 46% of CDG, respectively. This was followed by digestive, cardiovascular, dermatological, endocrine, and hematological symptoms (17-34%). Immunological, genitourinary, respiratory, psychiatric, and renal symptoms were less frequently reported (8-12%), with hair and dental abnormalities present in only 4-7% of CDG. The information provided in this study, including our proposed classification system for CDG, may be beneficial for healthcare providers caring for individuals with metabolic conditions associated with CDG.
摘要：
我们已经确定了由189种不同基因缺陷引起的200种先天性糖基化（CDG）疾病，并提出了基于作用方式的CDG分类系统。此分类包括8类:1.单糖合成和相互转化的紊乱，2.核苷酸糖合成和运输的紊乱,3.N-连接蛋白糖基化紊乱,4.O-连接蛋白糖基化紊乱,5.脂质糖基化紊乱，6.囊泡贩运疾病，7.多个糖基化途径的紊乱和8。糖蛋白/聚糖降解障碍。此外,使用来自IEMbase的信息，我们已经描述了19个器官和系统的临床受累，以及每种CDG的必要实验室调查。神经学，畸形，骨骼，眼部表现是最普遍的，发生在81%，56%,53%,和46%的CDG，分别。接下来是消化，心血管,皮肤病学,内分泌，和血液学症状（17-34%）。免疫学,泌尿生殖系统,呼吸,精神病学,肾脏症状的报告频率较低（8-12％），只有4-7%的CDG存在头发和牙齿异常。本研究提供的信息，包括我们提出的CDG分类系统，可能有利于医疗保健提供者照顾与CDG相关的代谢疾病的个体。
