FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia
Molecular Genetics and Metabolism Reports, cilt.43, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 43
- Basım Tarihi: 2025
- Doi Numarası: 10.1016/j.ymgmr.2025.101206
- Dergi Adı: Molecular Genetics and Metabolism Reports
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Directory of Open Access Journals
- Anahtar Kelimeler: Mitochondrial DNA depletion syndromes, Encephalopathy, Lactic acidosis, Hyperammonemia, FBXL4 gene
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Introduction: FBXL4- related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is caused by pathogenic variants in the FBXL4 gene, resulting in mitochondrial dysfunction and multisystem involvement. Hyperammonemia is reported in 45 % of cases but extremely elevated ammonia levels are rare. Case presentation: A male infant presented with dysmorphic features, hypotonia, failure to thrive, and lactic acidosis and severe hyperammonemia (ammonia: 1495 μmol/L). Genetic testing identified a homozygous FBXL4 pathogenic variant. Conclusion: 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 FBXL4 genetic testing in neonates with multisystem involvement, hyperammonemia, and dysmorphic features.