Burden of MCT8 deficiency
1 evidence topic · 3 sources
Summary
MCT8 deficiency causes cerebral hypothyroidism and peripheral thyrotoxicosis. In an international natural-history cohort of 151 participants, 32 (21%) died; estimated median overall survival was 35.0 years, with a 95% confidence interval of 8.3 to 61.7 years. In a caregiver survey, 54.5% of affected individuals had no head control and none could sit or walk without support. A U.S. healthcare-cost study analyzed 44 individuals with confirmed MCT8 deficiency and reported all-cause costs of $245,393 per patient per year.