ABOUT
MCT8 DEFICIENCY

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ABOUT MCT8 DEFICIENCY

MCT8 deficiency, also called Allan-Herndon-Dudley Syndrome, is an ultra-rare, genetic disorder.

People with MCT8 deficiency have a genetic mutation leading to a dysfunction of the monocarboxylate transporter 8, or MCT8. MCT8 helps transport thyroid hormone in and out of cells throughout the body. This includes transporting the thyroid hormone T3 into the brain. Dysfunctional MCT8 can lead to multiple symptoms. Watch the video to find out more about MCT8 deficiency and how it affects the body.

ABOUT MCT8 DEFICIENCY

SYMPTOMS OF MCT8 DEFICIENCY

Everyone born with MCT8 deficiency is different, but there are some common symptoms that affect most people with the condition. These symptoms can be divided into 2 types: neurological symptoms and endocrinological symptoms.

Usually an uneventful pregnancy and birth and no alarming signs and symptoms during the first 2-3 months

DIAGNOSING MCT8 DEFICIENCY

Like many rare diseases, MCT8 deficiency can be hard to diagnose. But thyroid hormone testing that includes T3 assessment can indicate an MCT8 deficiency diagnosis, and this can be confirmed with genetic testing.

diagnosing mct8 deficiency
  • MCT8 deficiency is an ultra-rare genetic disorder that is also known as Allan-Herndon-Dudley Syndrome
  • MCT8 deficiency is due to a problem with the SLC16A2 gene
  • People with MCT8 deficiency have both neurological and endocrinological symptoms