FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia
To our knowledge, this report presents a neonatal case of FBXL4-related mtDNA depletion syndrome with the highest hyperammonemia level. This case emphasizes the importance of <i>FBXL4</i> genetic testing in neonates with multisystem involvement, hyperammonemia, and dysmorphic features.
Authors
- Mustafa Kılıç (ORCID: https://orcid.org/0000-0002-1401-5233)
- Ayça Burcu Kahraman (ORCID: https://orcid.org/0000-0002-9563-0296)
- Zafer Bağcı (ORCID: https://orcid.org/0000-0003-4776-7236)
- Abdullah Sezer (ORCID: https://orcid.org/0000-0003-3886-3808)
- Halil Çelik (ORCID: https://orcid.org/0000-0002-2022-2909)
Institutions
- Konya Food and Agriculture University (TR)
- Memorial Ankara Hospital (TR)
- Konya Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101206
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 1.61