Iodine deficiency Iodine deficiency Iodine deficiency is a lack of the trace element iodine, an essential nutrient in the diet. It may result in a goiter, sometimes as an endemic goiter as well as cretinism due to untreated congenital hypothyroidism, which results in developmental delays and other health problems. Iodine deficiency is an important public health issue as it is a preventable cause of intellectual disability. Iodine is an essential dietary mineral; the thyroid hormones thyroxine and triiodothyronine contain iodine. In areas where there is little iodine in the diet, typically remote inland areas where no marine foods are eaten, iodine deficiency
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