HE’S HAD EVERY
TEST IMAGINABLE
EXCEPT
THE ONE
HE NEEDS

Identify MCT8 deficiency by adding a T3 test
to the standard thyroid function panel.

ABOUT MCT8 DEFICIENCY

MCT8 deficiency, also called Allan-Herndon-Dudley Syndrome, is an ultra-rare, X-linked genetic disorder that has a profound impact on the lives of patients, families, and caregivers.1,2 Find out more about the prevalence, pathophysiology and symptoms of MCT8 deficiency by clicking the link below.

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DIAGNOSING MCT8 DEFICIENCY

The current diagnosis and treatment pathway in MCT8 deficiency relies on first-hand insights and expertise from key endocrinologists, neurologists, and geneticists who have a specific knowledge of the disorder.

Although MCT8 deficiency is ultra-rare, the combination of symptoms and a specific pattern of thyroid hormone levels can help it to be identified.3 Explore thyroid and genetic tests key to MCT8 deficiency diagnosis here.

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RESEARCH & RESOURCES

Looking for additional information on MCT8 deficiency? Find links to ongoing research as well as resources for healthcare professionals and patients in the link below.

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CLICK TO CONNECT WITH US FOR UP-TO-DATE INFORMATION ABOUT MCT8 DEFICIENCY

MCT8, monocarboxylate transporter 8.

References: 1. Groeneweg S, et al. Lancet Diabetes Endocrinol 2020;8(7):594−605; 2. Edvard Smith CI, et al. iScience 2022;25:104698; 3. Sarret C, et al. Allan-Herndon-Dudley Syndrome. 2010 Mar 9 (updated 2020 Jan 16). In: Adam MP, et al, editors. GeneReviews® (Internet). Seattle (WA): University of Washington, Seattle; 1993–2023.

  • 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