Congenital disorders of glycosylation and liver diseases
10.3969/j.issn.1001-5256.2019.08.006
- VernacularTitle:先天性糖基化障碍与肝脏疾病
- Author:
Kuerbanjiang ABUDUXIKUER
1
;
Jianshe WANG
Author Information
1. Department of Hepatology, Children’s Hospital of Fudan University, Shanghai 201102, China
- Publication Type:Research Article
- Keywords:
congenital disorders of glycosylation;
diagnosis;
glycomics
- From:
Journal of Clinical Hepatology
2019;35(8):1684-1689
- CountryChina
- Language:Chinese
-
Abstract:
Congenital disorders of glycosylation (CDGs) is a group of inherited metabolic diseases caused by abnormal glycosylation of protein or lipids, and the number of CDGs are increasing rapidly in recent years. With the advent and popularization of next-generation sequencing, more and more disorders associated with glycosylation-related gene mutations have been discovered. Synthesis of glycoproteins and glycolipids is one of the major roles of the liver, and many CDGs affect hepatobiliary structure or function and may lead to fatty liver disease, liver fibrosis, and ductal plate malformation. This article reports the latest advances in the pathogenesis, diagnosis, and treatment of CDGs and related liver diseases.
