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

The Sengers syndrome caused by mutations in the AGK gene is a multisystem disorder characterized by lactic acidosis, congenital cataracts, hypertrophic cardiomyopathy, and skeletal myopathy.

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 AGK 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