Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome, previously known as cretinism, is a condition of severely stunted physical and mental growth owing to untreated congenital deficiency of thyroid hormone (congenital hypothyroidism) usually owing to maternal hypothyroidism. Around the world, the most common cause of congenital hypothyroidism is iodine deficiency. It has affected many people worldwide and continues to be a major public health problem in many countries. Iodine is an essential trace element, necessary primarily for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of brain damage worldwide. Although iodine is found in many
Isobutyryl-coenzyme A dehydrogenase deficiency body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder. Isobutyryl-coenzyme A dehydrogenase deficiency Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a buildup of valine in the urine, a symptom called valinuria. Defects in the "ACAD8" gene cause isobutyryl-coenzyme A dehydrogenase deficiency. The "ACAD8" gene provides