MCT8 deficiency also known as Allan-Herndon-Dudley syndrome (AHDS) is a rare, genetic disorder.
Nickie spent over 4 years trying to find the cause of her son, Liam’s symptoms. When tests came back confirming MCT8 deficiency, she was devastated but also determined to create the best possible future for her son.
To understand the complexities of the disorder including diagnosis and management, we’ll hear from Dr. Larry Fox, Chief of Pediatric Endocrinologist and Diabetes at Nemours Children’s Health and Dr. Andrew J. Bauer, Director of the Pediatric Thyroid Center at Children’s Hospital of Philadelphia (CHOP).
Industry and advocacy are pillars of the rare disease community, sharing their unique perspectives, MCT8-AHDS Foundation Board Member, Jennifer Favre and Anny Bedard, President of Egetis Therapeutics North America will be in studio for an exclusive interview.
About MCT8 Deficiency:
MCT8 deficiency, also known as Allan-Herndon-Dudley Syndrome (AHDS), is a debilitating and life-threatening rare genetic disorder that affects a child’s cognition, mobility and overall health.
This condition is caused by changes in the SLC16A2 gene, which is responsible for the thyroid hormone transporter MCT8. This transporter is essential for allowing the thyroid hormone T3 to get into tissues and cells, including across the blood-brain barrier and into neurons which are needed for normal development and function.
Due to the defective MCT8 transporter, patients with MCT8 deficiency have a shortage of thyroid hormones in the brain and an excess in other parts of the body. The shortage of thyroid hormone in the brain leads to neurodevelopmental impairment such as severe intellectual disability, delayed development and difficulty with speech and movement. While the excess of thyroid hormone in the rest of the body leads to endocrinological complications such as rapid heartbeat, weight loss, muscle weakness, impacting the heart, liver and kidneys.
If a doctor suspects MCT8 deficiency, they should order thyroid function tests, including TSH and T4. However, it is crucial to also test for T3, as this is key to diagnosing MCT8 deficiency. Genetic testing can confirm the diagnosis, especially in children showing symptoms. Early testing can help prevent further complications and guide appropriate care.
Within the last few years, there have been several clinical trials looking at new drugs to help treat patients with MCT8 deficiency. These efforts provide a sense of hope for the families that there’s a team working together to figure out what can be done to make the quality of life and the medical outcome for the patients and their families better.
