Mitochondrial neuro gastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive genetic condition caused mainly by thymidine phosphorylates (TP) deficiency and TYMP mutations. Gender equality in scientific publishing is crucial for fostering inclusive practices and promoting diversity in research. This research article conducted a bibliometric analysis using PubMed as the primary data source. The analysis focused on studying the trends and patterns of first author gender equality in the publication of MNGIE disease. The methodology involved data collection, article screening, gender determination using the Namsor app, statistical analysis using R software, and visualization of findings through graphs created with DataWrapper. Our study utilized PubMed as the primary data source, covering the period from 1993 to 2022, and included 224 articles. The findings revealed that 57.6% of first authors were male, while 42.4% were female. Furthermore, the analysis of gender trends based on countries revealed that the Netherlands had the most favorable gender ratio. It revealed a significant association present between the first author’s gender and country. Additionally, selected journals exhibited a favorable gender ratio, with a 1:1 female-to-male ratio in nine out of ten journals examined. ARIMA model predicted that by 2027, approximately 160 publications would have male whereas around 120 publications would have female first authors. Our study highlights the gender discrepancies in first authorship within the context of MNGIE publications and provides insights into the representation of women in medical research. Efforts should be made to address these inequalities and promote gender equality in scientific publishing.