This website provides information on patients with mutations in the FBXL4 gene, including clinical data, molecular data, management and research options.

Mutations in the FBXL4 gene cause Mitochondrial DNA depletion syndrome 13, an autosomal recessive disorder characterized by early-onset encephalopathy, lactic acidosis, hypotonia, and severe global developmental delay and is usually associated with progressive cerebral atrophy. A wide range of other clinical features may also be variably seen, including dysmorphism, skeletal abnormalities, seizures, and episodic metabolic failure.

This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the FBXL4 gene.

Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, faltuame@alfaisal.edu