Our mission

MCT8 deficiency or the Allan-Herndon-Dudley syndrome (AHDS) is a rare genetic disease. In most countries only a few boys with MCT8 deficiency have been identified, often after a long diagnostic trajectory. Therefore, knowledge, experience and expertise among medical doctors about MCT8 deficiency is limited and scattered throughout the world.

International collaborations among doctors, researchers, parents and families that care for children or adults with MCT8 deficiency are required to share the available knowledge, experience and expertise. The MCT8 deficiency Study Group has been recently founded in order to promote such international collaborations. We strongly believe that sharing experience and knowledge is the key to improve the medical and daily care for each individual patient with MCT8 deficiency worldwide.