This website provides information on patients with variants in the SLC16A1 gene, including clinical data, molecular data, management and research options.

So far, on a world-wide basis only about 20 individuals with a diagnosis of monocarboxylate (MCT) 1 transporter deficiency have been reported, which is caused by variations of the SLC16A1 gene.

Patients present with -often profound, potentially lethal - ketoacidosis, which is presumably triggered by certain genetic and environmental factors and may occur repeatedly. Some affected individuals may also present with developmental impairment/intellectual disability.  

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 variants in the SLC16A1 gene.

Professor Dr. rer. nat. Jörn Oliver Sass, Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany, joern.oliver.sass@h-brs.de