Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-04-10 DOI:10.1016/j.ymgme.2024.108476
Bobby G. Ng , Hudson H. Freeze , Nastassja Himmelreich , Nenad Blau , Carlos R. Ferreira
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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.

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先天性糖基化紊乱的临床和生化足迹:拟议的命名法
我们已经确定了由 189 种不同基因缺陷引起的 200 种先天性糖基化紊乱(CDG),并根据作用方式提出了 CDG 的分类系统。该分类包括 8 个类别:1.单糖合成和相互转化障碍;2.核苷酸糖合成和转运障碍;3.N-连接蛋白质糖基化障碍;4.O-连接蛋白质糖基化障碍;5.脂质糖基化障碍;6.囊泡转运障碍;7.多重糖基化途径障碍;8.糖蛋白/糖蛋白糖基化障碍。糖蛋白/聚糖降解障碍。此外,利用 IEMbase 中的信息,我们描述了 19 个器官和系统的临床受累情况,以及每种 CDG 的基本实验室检查。神经系统、畸形、骨骼和眼部表现最为普遍,分别占 CDG 的 81%、56%、53% 和 46%。其次是消化道、心血管、皮肤、内分泌和血液症状(17%-34%)。免疫、泌尿生殖、呼吸、精神和肾脏症状的报告较少(8-12%),仅有 4-7% 的 CDG 出现毛发和牙齿异常。本研究提供的信息,包括我们提出的 CDG 分类系统,可能对医护人员护理与 CDG 相关的代谢性疾病患者有所帮助。
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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