Thyroid hormones which causes the thyroid to enlarge (the resulting medical condition is called "endemic colloid goitre"; see goitre). This has the effect of increasing the thyroid's ability to trap more iodide, compensating for the iodine deficiency and allowing it to produce adequate amounts of thyroid hormone. Most of the thyroid hormone circulating in the blood is bound to "transport protein"s. Only a very small fraction of the circulating hormone is free (unbound) and biologically active, hence measuring concentrations of free thyroid hormones is of great diagnostic value. When thyroid hormone is bound, it is not active, so the amount of free
PMM2 deficiency PMM2 deficiency PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide. PMM2 deficiency is diagnosed through genetic sequencing. More than 115 mutations in PMM2 gene have been found to cause this disease. There is no cure for PMM2