Search for anything...

Allan Herndon Dudley Syndrome MCT8

Official Community

Allan-Herndon- Dudley (AHDS) is caused by a mutation of the MCT8 gene which is responsible for the transport of Thyroid Hormones to the brain. It is an X-link inherited mutation that only affects male patients. Because of the mutation, the blood brain barrier does not recognize the carrier and it doesn’t allow its passage into the brain. As a result, the brain doesn’t develop properly. Lack of thyroid hormones in the brain is the main cause for mental delay. So, the hormones are stuck in the body creating toxicity in the blood and putting pressure on vital organs.

Synonyms

AHDS
Allan-Herndon-Dudley syndrome
Allan-Herndon syndrome
MCT8-specific thyroid hormone cell transporter deficiency
MCT8-THCT deficiency
mental retardation, X-linked, with hypotonia
THCT deficiency