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[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)]
Division Of Biochemistry And Metabolism Medical Genetics Branch Chinese Medical Association1, Division Of Genetics And Metabolism Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health Care, Xinwen Huang
1Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou, Zhejiang 310052, China. 6305022@zju.edu.cn.
Abstract:
Citrin deficiency is an inherited metabolic disease that primarily affects the liver, growth and development, and can even lead to death. To deepen the understanding of this disease and improve the diagnostic and therapeutic levels as well as the standardized management of doctors in the relevant fields in China, this "Guidelines for the diagnosis, treatment, and management of Citrin deficiency" have been formulated. This guideline can provide opinions over eight clinical issues related to the diagnosis, treatment, and management of Citrin deficiency based on the currently available clinical evidence.
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