Guidelines for diagnosis, treatment and management of urea cycle disorders in China in 2022

Title: Guidelines for diagnosis, treatment and management of urea cycle disorders in China in 2022
Edition: Original
Classification: Standard guideline
Field: Comprehensive guideline
Countries and regions: China
Guidelines users: Clinical pediatricians, geneticists, neurologists, etc.
Evidence classification method: The guideline involves the determination of clinical problems: the expert group will score the importance of the clinical problems involved in the guideline and judge its importance Evidence grading method: GREAD evidence grading method, divided into high, medium, low, and very low. The expert group evaluates the research evidence corresponding to the clinical problem; the recommendation opinions of the relevant items are completed according to the strength of the evidence: strong recommendation, recommendation and suggestion For related issues that are not supported by clinical evidence: the expert group will discuss and reach a consensus, and also complete the recommendations of related items: strong recommendations, recommendations and suggestions
Development unit: 中国罕见病联盟
Registration time: 2021-09-13
Registration number: IPGRP-2021CN295
Purpose of the guideline: Patients with UCDs in China still have unmet medical needs, which are rare diseases, clinical misdiagnosis, diagnosis delays, high mortality and disability rates, and no standardized long-term management. We hope to facilitate the standard management of UCDs by refer this new guidelines.