This website provides information on patients with mutations in the FOXRED1 gene, including clinical data, molecular data, management and research options.

The mitochondrial complex I deficiency (nuclear type 19) caused by mutations in the FOXRED1 gene is a multisystem disorder characterized by marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, myopathy and hepatopathy with tubulopathy.Not all individuals with a mutation in the FOXRED1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FOXRED1 gene.

Sofia Barbosa Gouveia, PhD, Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain, sofia.isabel.barbosa.sousa.gouveia@sergas.es

Álvaro Hermida Ameijeiras, MD, PhD, Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain, alvaro.hermida@usc.es