With the improvement in quality of life and the level of prevention and treatment of viral hepatitis, as well as the availability of genetic testing, genetic liver disorders have been taken more and more seriously. Genetic liver disorders have various clinical manifestations, such as abnormalities in the liver and intrahepatic or extrahepatic blood vessels/bile ducts, and it can also involve other organs and systems in the human body. These are the myriad faces of genetic liver disorders. This article focuses on different manifestations of genetic liver disorders, in order to help physicians identify the etiology and pathogenic gene of liver disease.

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.

With the improvement in health economics and wide application of vaccines, the incidence of viral hepatitis decreases dramatically; however, the proportion of non-infectious liver diseases, such as nonalcoholic fatty liver disease, hereditary liver disease, and autoimmune hepatitis, climbs up rapidly. This paper summarizes the development and current situation of the subspecialties of pediatric liver diseases. In recent years, the clinical and basic research on domestic pediatric liver diseases has made some progress through the application of new techniques, such as liver biopsy, bile acid spectrum analysis, screening for inherited metabolic diseases, and genetic diagnosis. However, Chinese pediatricians are confronting new challenges from growing knowledge on liver diseases, expanding disease spectrum, and increasing demand for liver transplant. However, there is an urgent need to enhance the development of the subspecialty of pediatric hepatology in China, because most Chinese pediatricians have little knowledge of liver diseases, and there is a severe shortage of specialized medical staff for pediatric liver diseases.

With the economic development and living standards improvement, various chronic viral liver diseases in children is decreasing year by year, and the liver diseases related to heredity, environment and living habits is increasing. Although liver disease in children is relatively rare and is not the main cause of childhood mortality, chronic liver disease cannot be ignored for its effect on children's growth and development, mental health, quality of life and the economic burden to family or society. Therefore, more attention should be paid to the early screening, diagnosis and treatment of pediatric liver diseases, in order to delay or prevent its progression efficiently.
Child ; Disease Progression ; Heredity ; Humans ; Liver Diseases/epidemiology* ; Quality of Life

Worldwide, liver transplantation for adults and children is rapidly developing with the advancement of surgical techniques, market availability of new immunosuppressant drugs, and improved post-surgical management. Previously, liver transplantation was limited to end-stage liver disease, but recently many patients with inherited metabolic diseases achieves prolong survival and better quality of life. This article reviews the latest trends in the relationship between inherited metabolic diseases and liver, characteristics of inherited metabolic liver diseases, inherited metabolic disorders that may need liver transplantation, indications for liver transplant, and the key points of perioperative management.
Humans ; Liver Diseases ; Liver Transplantation ; Metabolic Diseases ; Quality of Life

The advancement and popularization of molecular diagnostic techniques has challenged and redefined the traditional concept of genetic metabolic disease. Regardless of disease origin, all genetic defects that lead to hepatobiliary dysfunction or structural abnormalities are termed as genetic liver disorders. Online Mendelian Inheritance in Man (OMIM) is a database consisting 693 genetic diseases with clear molecular mechanism of liver related phenotypes. Moreover, the effective measures to control infectious liver disease have strengthened the importance of research in the field of (adult and children) genetic liver disorders at home and abroad by well-recognized hepatologists. Notably, all patients with unexplained hepatopathy and multiple system diseases involving liver and gallbladder needs screening for genetic liver disorders, except for factors such as infection, immunity, drug-related, and anatomical abnormalities. We hope more patients with complicated liver disorders will benefit from definitive diagnosis and effective treatment in the near future with clear explanation of clinical phenotype, genotype, and metabolomics.

The advancement and popularization of molecular diagnostic techniques has challenged and redefined the traditional concept of genetic metabolic disease. Regardless of disease origin, all genetic defects that lead to hepatobiliary dysfunction or structural abnormalities are termed as genetic liver disorders. Online Mendelian Inheritance in Man (OMIM) is a database consisting 693 genetic diseases with clear molecular mechanism of liver related phenotypes. Moreover, the effective measures to control infectious liver disease have strengthened the importance of research in the field of (adult and children) genetic liver disorders at home and abroad by well-recognized hepatologists. Notably, all patients with unexplained hepatopathy and multiple system diseases involving liver and gallbladder needs screening for genetic liver disorders, except for factors such as infection, immunity, drug-related, and anatomical abnormalities. We hope more patients with complicated liver disorders will benefit from definitive diagnosis and effective treatment in the near future with clear explanation of clinical phenotype, genotype, and metabolomics.
Child ; Databases, Genetic ; Genetic Diseases, Inborn ; Genotype ; Humans ; Liver Diseases/therapy* ; Phenotype