Similar Diseases
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Results for Query ‹ AHDS medication ›
Allan–Herndon–Dudley syndrome – Treatment
In May 2013, the US FDA granted Orphan drug status to Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. This was following the use of DITPA towards a child in Australia, under compassionate grounds.
There is no established treatment for AHDS. Theoretical considerations suggested TRIAC (triiodothyroacetate or tiratricol, a natural non-classical thyroid hormone) to be beneficial. In 2014, a case was demonstrated in which therapy with TRIAC in early childhood led to significant improvement of cognition and mobility. Currently, the effect of Triac is under investigation.
Allan–Herndon–Dudley syndrome – Abstract
Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs almost exclusively in males, disrupts development from before birth.
Allan–Herndon–Dudley syndrome, which is named eponymously for William Allan, Florence C. Dudley, and C. Nash Herndon, results from a mutation of the thyroid hormone transporter MCT8 (also referred to as SLC16A2). Consecutively, thyroid hormones are unable to enter the nervous system, which depends on thyroid signaling for proper function and development.