[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)].

PubMed 2026

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Authors: Division Of Biochemistry And Metabolism Medical Genetics Branch Chinese Medical Association, Division Of Genetics And Metabolism Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health Care, Xinwen Huang
DOI: 10.3760/cma.j.cn511374-20251121-00678
Cited by: 0

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.

Fields of Study & Subjects

Metabolism and Genetic Disorders Pediatric Hepatobiliary Diseases and Treatments Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
PubMed
Volume
43
Issue
2
Pages
81–89
Publication date
10 February 2026
Language
ZH