ABOUT MCT8 DEFICIENCY
MCT8 Deficiency is also called Allan-Herndon-Dudley Syndrome. It is an ultra-rare condition that affects around 1 in 70,000 males at birth. Itʼs even more rare in females.
People with MCT8 Deficiency have a mutation in the gene that builds a protein called monocarboxylate transporter 8, or MCT8. MCT8 helps transport a specific thyroid hormone called T3 into the brain and other tissues in the body. But dysfunctional MCT8 means this system doesn’t work properly, leading to multiple symptoms. Watch the video to find out more about MCT8 Deficiency and how it affects the body.
SYMPTOMS OF MCT8 DEFICIENCY
Everyone born with MCT8 Deficiency is different, but there are some common symptoms that affect most people with the condition.
DIAGNOSING MCT8 DEFICIENCY
Like many rare diseases, MCT8 Deficiency can be hard to diagnose. But routine thyroid testing that includes T3 assessment can indicate an MCT8 Deficiency diagnosis, and this can be confirmed with genetic testing.