The Allan-Herndon-Dudley Syndrome: Pathophysiology and Mouse Models of MCT8 Deficiency

Mutations of the thyroid hormone cell-transporter gene, monocarboxylate transporter 8, or MCT8, cause an X-linked syndrome characterized by altered thyroid hormone concentrations in serum, profound neuromotor impairment, and cognitive deficits. This chapter describes the clinical features of the syndrome and analyzes the mechanisms of disease from studies of MCT8 deficiency in mice. The final section of the chapter describes the available treatments and experimental therapies.