Congenital iodine deficiency syndrome degree of iodine deficiency was milder and manifested primarily as thyroid enlargement rather than severe mental and physical impairment. In Switzerland, for example, where soil does not contain a large amount of iodine, cases of congenital iodine deficiency syndrome were very abundant and even considered genetically caused. As the variety of food sources dramatically increased in Europe and North America and the populations became less completely dependent on locally grown food, the prevalence of endemic goitre diminished. The early 20th century saw the discovery of the relationships of neurological impairment with hypothyroidism due to iodine deficiency. Both have been largely
Ornithine translocase deficiency Ornithine translocase deficiency Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Mutations in "SLC25A15" cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of metabolic disorders referred to as urea cycle disorders. The urea cycle is a sequence of reactions that