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. 2024 Nov 18;14:28391. doi: 10.1038/s41598-024-78105-y

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — All reported variants in this study and the literature in Egyptian MSUD patients with their familial frequencies. The number of families affected by each variant is represented by the number of circles adjacent to each variant based on the variants reported by Khalifa et al., 2020; Dahpy et al., 2021 and this study. The symbol @ represents variants reported in our study and # represents variants reported only in Egyptian patients and absent in the literature or international MSUD databases so far.