Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions

This study aims to explore the research hotspots and trends of urea cycle disorders through bibliometric analysis.

Using the Web of Science Core Collection as the database, we retrieved literature published from 2007 to 2024. We utilized CiteSpace, VOSviewer, and Bibliometrix R package to conduct a bibliometric visualization analysis, including the number of publications, citation frequency, publishing countries, institutions, journals, authors, references, and keywords.

A total of 926 publications on UCDs were published in 318 journals by 4807 authors at 1494 institutions from 49 countries/regions. The USA had the highest number of publications and citation frequency. The Children's National Health System in the USA published the most literature. The most frequent collaboration was between the USA and Germany. The journal with the most publications was Molecular Genetics and Metabolism. The author with the most publications was Johannes Häberle. The most frequently cited reference was the 2019 publication of the revised guidelines for the diagnosis and management of UCDs. The identified future research hotspots are expected to focus on "gene therapy", "mutations" and "efficacy".

This study is the first bibliometric analysis of publications in the field of UCDs. These findings suggest that European and American countries dominate UCD research, it is necessary to further strengthen global cooperation in the field of UCDs. Early detection of the disease and emerging therapies, including gene therapy, are likely to be future research hotspots.