HE’S HAD EVERY
TEST IMAGINABLE EXCEPT
THE ONE
HE NEEDS
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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.
![Test tubes](https://www.mct8deficiency.com/wp-content/uploads/shutterstock_441264445.jpg)
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.